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Find video protocols related to scientific articles indexed in Pubmed.
Characteristics of MPO-ANCA-positive granulomatosis with polyangiitis: a retrospective multi-center study in Japan.
Rheumatol. Int.
PUBLISHED: 08-17-2014
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We studied the clinico-pathological differences among PR3-ANCA-positive granulomatosis with polyangiitis (PR3-GPA), MPO-ANCA-positive GPA (MPO-GPA) and microscopic polyangiitis (MPA). ANCA-associated vasculitis (AAV) was classified using the European Medicines Agency classification. We retrospectively analyzed 38 patients with GPA and 41 with MPA treated in eight hospitals in Japan. Of the patients with GPA, 17 were positive for MPO-ANCA, and 15 for PR3-ANCA. All patients with MPA were MPO-ANCA positive. The mean ages of those with MPO-GPA were 69.6 years old, 10 years older than those with PR3-GPA. The majority (82 %) of patients with MPO-GPA were woman, a significantly greater proportion than for PR3-GPA. We also found that ear, nose and throat (ENT), nervous system involvement were significantly more common in MPO-GPA, but renal function was less impaired than those with MPA. Both PR3-GPA and MPO-GPA relapsed more frequently than MPA, but overall survival was significantly better (P < 0.01 and P < 0.05, respectively). Univariate analysis identified the following factors as predictors of a poor prognosis: MPA (P < 0.01), pulmonary UIP pattern (P < 0.005) Cr ? 1.7 mg/dl (P < 0.01) and absence of ENT involvement (P < 0.05), which were characteristics of MPA. In our cohort, MPO-GPA was most likely to affect older women and was associated with otitis media, nervous system involvement, mild renal impairment and more favorable outcome. It is clinically useful to differentiate MPO-GPA from MPA and PR3-GPA in patients with AAV.
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Reduced carotid intima-media thickness in systemic lupus erythematosus patients treated with cyclosporine A.
Mod Rheumatol
PUBLISHED: 08-01-2014
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Patients with systemic lupus erythematosus (SLE) are at risk of atherosclerosis. An increased carotid intima-media thickness (IMT) is considered to be a marker of early atherosclerosis. Objective To determine influential factors for increased carotid IMT in SLE patients.
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Linking lifestyle factors and insulin resistance, based on fasting plasma insulin and HOMA-IR in middle-aged Japanese men: a cross-sectional study.
Scand. J. Clin. Lab. Invest.
PUBLISHED: 05-16-2014
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Insulin resistance (IR) is regarded as one of the earliest features of many metabolic diseases, and major efforts are aimed at improving insulin function to confront this issue. The aim of this study was to investigate the relationship of body mass index (BMI), cigarette smoking, alcohol intake, physical activity, green tea and coffee consumption to IR.
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A meta-analysis of the evidence on the impact of prenatal and early infancy exposures to mercury on autism and attention deficit/hyperactivity disorder in the childhood.
Neurotoxicology
PUBLISHED: 04-08-2014
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Although a measurable number of epidemiological studies have been conducted to clarify the associations between mercury exposure during embryo or early infancy and later incidences of autism spectrum disorders (ASD) or attention-deficit hyperactivity disorder (ADHD), the conclusion still remains unclear. Meta-analysis was conducted for two major exposure sources; i.e., thimerosal vaccines that contain ethylmercury (clinical exposure), and environmental sources, using relevant literature published before April 2014. While thimerosal exposures did not show any material associations with an increased risk of ASD or ADHD (the summary odds ratio (OR) 0.99, 95% confidence interval (CI) 0.80-1.24 for ASD; OR 0.91, 95% CI 0.70-1.13 for ADHD/ADD), significant associations were observed for environmental exposures in both ASD (OR 1.66, 95% CI 1.14-2.17) and ADHD (OR 1.60, 95% CI 1.10-2.33). The summary ORs were similar after excluding studies not adjusted for confounders. Moderate adverse effects were observed only between environmental inorganic or organic mercury exposures and ASD/ADHD. However, these results should be interpreted with caution since the number of epidemiological studies on this issue was limited and still at an early stage. Further studies focused on subjects with genetic vulnerabilities of developmental disorders are warranted for better understanding of the effects of such environmental exposures.
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Exposure to secondhand tobacco smoke and lung cancer by histological type: a pooled analysis of the International Lung Cancer Consortium (ILCCO).
Int. J. Cancer
PUBLISHED: 01-30-2014
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While the association between exposure to secondhand smoke and lung cancer risk is well established, few studies with sufficient power have examined the association by histological type. In this study, we evaluated the secondhand smoke-lung cancer relationship by histological type based on pooled data from 18 case-control studies in the International Lung Cancer Consortium (ILCCO), including 2,504 cases and 7,276 control who were never smokers and 10,184 cases and 7,176 controls who were ever smokers. We used multivariable logistic regression, adjusting for age, sex, race/ethnicity, smoking status, pack-years of smoking, and study. Among never smokers, the odds ratios (OR) comparing those ever exposed to secondhand smoke with those never exposed were 1.31 (95% CI: 1.17-1.45) for all histological types combined, 1.26 (95% CI: 1.10-1.44) for adenocarcinoma, 1.41 (95% CI: 0.99-1.99) for squamous cell carcinoma, 1.48 (95% CI: 0.89-2.45) for large cell lung cancer, and 3.09 (95% CI: 1.62-5.89) for small cell lung cancer. The estimated association with secondhand smoke exposure was greater for small cell lung cancer than for nonsmall cell lung cancers (OR=2.11, 95% CI: 1.11-4.04). This analysis is the largest to date investigating the relation between exposure to secondhand smoke and lung cancer. Our study provides more precise estimates of the impact of secondhand smoke on the major histological types of lung cancer, indicates the association with secondhand smoke is stronger for small cell lung cancer than for the other histological types, and suggests the importance of intervention against exposure to secondhand smoke in lung cancer prevention.
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Modifying effect of N-acetyltransferase 2 genotype on the association between systemic lupus erythematosus and consumption of alcohol and caffeine-rich beverages.
Arthritis Care Res (Hoboken)
PUBLISHED: 01-02-2014
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N-acetyltransferase 2 (NAT2) is involved in the metabolism of various environmental substances, both with and without carcinogenic potential. Alcoholic and nonalcoholic caffeine-rich beverages may be associated with markers of inflammation. Systemic lupus erythematosus (SLE) is a chronic, multifaceted inflammatory disease. We investigated the effects of alcoholic and nonalcoholic caffeine-rich beverages on risk of SLE and determined whether the effects were modified by NAT2 status.
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Psychological stress in a Japanese population with systemic lupus erythematosus: Finding from KYSS study.
Mod Rheumatol
PUBLISHED: 11-05-2013
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Objectives. Daily psychological stress has been proposed as a risk factor for systemic lupus erythematosus (SLE) in Western countries. However, there is little information about the relationship between daily psychological stress and the risk of SLE in a Japanese population. We examined the association between SLE and daily psychological stress. Methods. A case-control study was conducted to examine the relationship between daily psychological stress and SLE in Japanese females. The participants were 160 female SLE patients and 660 female volunteers. Unconditional logistic regression was used to compute OR and 95% confidence interval (CI), with adjustment for several covariates. Results. Smoking (OR = 2.59; 95% CI, 1.74-3.86), walking (OR = 1.75; 95% CI, 1.81-2.56) and daily psychological stress (OR = 1.88; 95% CI, 1.14-3.10) were increased in patients with SLE after adjusting for age, region and all factors. Smokers with daily psychological stress (OR = 4.70; 95% CI = 2.53-8.77) were more prevalent than nonsmokers without daily psychological stress in SLE. The multiplicative interaction measures between smoking status and daily psychological stress did not reach statistical significance. Conclusions. The present study suggests the possibility that daily psychological stress as well as smoking might be associated with an increased risk of SLE.
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Genetic polymorphisms involved in the inflammatory response and lung cancer risk: A case-control study in Japan.
Cytokine
PUBLISHED: 07-24-2013
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Evidence is accumulating that chronic inflammation may have an important mechanism for the development and progression of lung cancer. Therefore, genetic polymorphisms in genes that involved in the inflammatory response may be associated with lung cancer risk. We evaluated the role of tumor necrosis factor ? (TNFA) rs1799724, interleukin 1? (IL1B) rs16944, IL6 rs1800796, myeloperoxidase (MPO) rs2333227 and C-reactive protein (CRP) rs2794520 in a case-control study comprised of 462 lung cancer cases and 379 controls in a Japanese population. Unconditional logistic regression was used to assess the adjusted odds ratios (OR) and 95% confidence intervals (95% CI). CRP rs2794520 (OR=1.64, 95% CI=1.19-2.26) and IL6 rs1800796 (OR=1.41, 95% CI=1.02-1.96) were associated with lung cancer risk. In addition, we assessed interactions between the polymorphisms and smoking. The polymorphisms did not significantly modify the association between smoking and lung cancer. As TNFA triggers a cytokine cascade, the modifying effect of the TNFA rs1799724 genotypes on the association of any of the remaining polymorphisms with lung cancer risk was also examined. There was a significant interaction between TNFA rs1799724 and MPO rs2333227 (Pinteraction=0.058). Future studies involving larger control and case populations will undoubtedly lead to a more thorough understanding of the role of the polymorphisms involved in the inflammation pathway in lung cancer.
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Cigarette smoking and Parkinsons disease: a meta-analysis.
Fukuoka Igaku Zasshi
PUBLISHED: 10-05-2011
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Many but not all studies have indicated that smoking is inversely associated with Parkinsons disease (PD). Meta-analysis of epidemiological studies on smoking and PD was performed to summarize data from published studies. Fifty-four epidemiological studies (48 case-control and 6 cohort studies, 53 publications) were identified for potential inclusion in meta-analysis. The summary risk estimates for current smokers, former smokers, and ever (current and former) smokers were 0.31 (95% confidence interval (CI) = 0.25-0.38), 0.72 (95% CI = 0.63-0.83) and 0.55 (95% CI = 0.51-0.59), respectively. In stratified analysis by study design, smoking had a somewhat greater impact on PD risk in cohort studies than in case-control studies. However, meta-regression indicated that the study design did not significantly contribute to heterogeneity. Additional analyses were restricted to case-control studies because of the sufficient number of studies. Stratified analysis by ethnicity indicated that the summary OR for ever-smokers was nonsignificantly smaller in Asian populations than in Caucasian populations. In stratified analysis by source of controls, former smoking was significantly associated with a decreased risk of PD in hospital-based case-control studies but was marginally associated with a decreased risk in population-based case-control studies. The source of controls did not contribute significantly to heterogeneity. PD risk associated with ever-smoking was significantly lower for a hospital-based approach than a population-based approach. Among current smokers, the association held true to the same extent for both approaches. This meta-analysis indicated that smokers have a lower risk of PD. As PD is a multifactorial disease, further investigation of the smoking-gene interaction on PD risk may lead to a better understanding of the pathogenesis of PD.
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Methylenetetrahydrofolate reductase polymorphisms and interaction with smoking and alcohol consumption in lung cancer risk: a case-control study in a Japanese population.
BMC Cancer
PUBLISHED: 07-27-2011
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Cigarette smoking is an established risk factor of lung cancer development while the current epidemiological evidence is suggestive of an increased lung cancer risk associated with alcohol consumption. Dietary folate, which is present in a wide range of fresh fruits and vegetables, may be a micronutrient that has a beneficial impact on lung carcinogenesis. Methylenetetrahydrofolate reductase (MTHFR) plays a crucial role in regulating folate metabolism, which affects both DNA synthesis/repair and methylation. We examined if smoking or alcohol consumption modify associations between MTHFR polymorphisms and lung cancer risk.
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Genetic polymorphisms involved in dopaminergic neurotransmission and risk for Parkinsons disease in a Japanese population.
BMC Neurol
PUBLISHED: 04-15-2011
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Parkinsons disease (PD) is characterized by alterations in dopaminergic neurotransmission. Genetic polymorphisms involved in dopaminergic neurotransmission may influence susceptibility to PD.
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Intake of Japanese and Chinese teas reduces risk of Parkinsons disease.
Parkinsonism Relat. Disord.
PUBLISHED: 02-25-2011
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Studies that have addressed the association between the intake of coffee or caffeine and Parkinsons disease (PD) were conducted mainly in Western countries. Little is known about this relationship in an Asian population. Therefore, we performed an assessment of the association of the intake of coffee, other caffeine-containing beverages, and caffeine with the risk of PD in Japan. The study involved 249 PD cases and 368 control subjects. Information on dietary factors was obtained through a self-administered diet history questionnaire. Adjustment was made for sex, age, region of residence, educational level, pack-years of smoking, body mass index, the dietary glycemic index, and intake of cholesterol, vitamin E, ?-carotene, vitamin B(6,) alcohol, and iron. Intake of coffee, black tea, and Japanese and Chinese teas was significantly inversely associated with the risk of PD: the adjusted odds ratios in comparison of the highest with the lowest quartile were 0.52, 0.58, and 0.59, respectively (95% confidence intervals = 0.30-0.90, 0.35-0.97, and 0.35-0.995, respectively). A clear inverse dose-response relationship between total caffeine intake and PD risk was observed. We confirmed that the intake of coffee and caffeine reduced the risk of PD. Furthermore, this is the first study to show a significant inverse relationship between the intake of Japanese and Chinese teas and the risk of PD.
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APOE and CYP2E1 polymorphisms, alcohol consumption, and Parkinsons disease in a Japanese population.
J Neural Transm
PUBLISHED: 02-16-2011
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Apolipoprotein E (APOE) is associated with increased oxidative stress, which is caused by reactive oxygen species (ROS). Enhanced cytochrome P450 2E1 (CYP2E1) activity may also increase formation of neurotoxins such as ROS. As Parkinsons disease (PD) is a neurodegenerative disorder, both the APOE and CYP2E1 genes that are involved in neurodegeneration by oxidative stress may be associated with PD risk. We investigated the relationship of the APOE and CYP2E1 rs2864987 polymorphisms and PD risk with special attention to the interaction with alcohol consumption among 238 patients with PD and 296 controls in a Japanese population. The frequencies of the ?2, ?3, and ?4 alleles of the APOE polymorphism among controls were 3.72, 86.7, and 9.63%, respectively. As compared with the APOE ?3/?3 genotype, the 2/?4 genotype was associated with an increased risk of PD (adjusted odds ratio (OR) = 9.50, 95% (confidence interval) CI = 1.12-80.6). The presence of the ?3 allele was associated with a decreased risk of PD. Meanwhile, CYP2E1 rs2864987 was not associated with PD risk. Although CYP2E1 is involved in the metabolism of alcohol, there was no evidence of interaction between alcohol consumption and CYP2E1 rs2864987. Our results suggested that the APOE polymorphism might play an important role in PD susceptibility in our Japanese population. Future studies involving larger control and case populations and better alcohol consumption histories will undoubtedly lead to a more thorough understanding of the role of polymorphisms of genes related to the generation of ROS in PD development.
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Aberrant structures of fecal bacterial community in allergic infants profiled by 16S rRNA gene pyrosequencing.
FEMS Immunol. Med. Microbiol.
PUBLISHED: 02-08-2011
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We investigated the correlation between fecal bacteria composition in early infancy and the prevalence of allergic diseases in late infancy. The fecal microbiota in the first 2 months was profiled using the 16S rRNA V6 short-tag sequences in the community and statistically compared between two groups of subjects who did and did not show allergic symptoms in the first 2 years (n = 11 vs. 11). In the allergic group, genus Bacteroides at 1 month and genera Propionibacterium and Klebsiella at 2 months were more abundant, and genera Acinetobacter and Clostridium at 1 month were less abundant than in the nonallergic group. Allergic infants who showed high colonization of Bacteroides and/or Klebsiella showed less colonization of Clostridium perfringens/butyricum, suggesting antagonism between these bacterial groups in the gastrointestinal tract. It was also remarkable that the relative abundance of total Proteobacteria, excluding genus Klebsiella, was significantly lower in the allergic than in the nonallergic group at the age of 1 month. These results indicate that pyrosequence-based 16S rRNA gene profiling is valid to find the intestinal microbiotal disorder that correlates with allergy development in later life.
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Dietary intake of metals and risk of Parkinsons disease: a case-control study in Japan.
J. Neurol. Sci.
PUBLISHED: 01-28-2011
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Metals are involved in several important functions in the nervous system. Zinc and iron are increased and copper is decreased in the substantia nigra in Parkinsons disease (PD). However, epidemiological evidence for the association of dietary intake of metals with the risk of PD is limited. We investigated the relationship between metal consumption and the risk of PD in Japan using data from a multicenter hospital-based case-control study. Included were 249 cases within 6 years of onset of PD based on the UK PD Society Brain Bank clinical diagnostic criteria. Controls were 368 inpatients and outpatients without a neurodegenerative disease. Information on dietary factors was collected using a self-administered diet history questionnaire. Higher intake of iron, magnesium, and zinc was independently associated with a reduced risk of PD: the adjusted OR in the highest quartile was 0.24 (95% CI: 0.10-0.57, P for trend=0.0003) for iron, 0.33 (95% CI: 0.13-0.81, P for trend=0.007) for magnesium and 0.50 (95% CI: 0.26-0.95, P for trend=0.055) for zinc. There were no relationships between the intake of copper or manganese and the risk of PD. Higher intake of iron, magnesium, and zinc may be protective against PD.
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Occupational risk factors for Parkinsons disease: a case-control study in Japan.
BMC Neurol
PUBLISHED: 01-18-2011
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The evidence for associations between occupational factors and the risk of Parkinsons disease (PD) is inconsistent. We assessed the risk of PD associated with various occupational factors in Japan.
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Alcohol consumption and lung cancer risk among Japanese: a meta-analysis.
Fukuoka Igaku Zasshi
PUBLISHED: 09-18-2010
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t is unknown what biologic mechanism may be responsible for the harmful effects of alcohol, though several have been suggested. Alcohol consumption is an established risk factor for cancers of the oral cavity, pharynx, larynx, esophagus and liver. However, epidemiologic studies have not provided consistent evidence on the effect of alcohol consumption on the risk of lung cancer. To evaluate the role of alcohol consumption in the risk of lung cancer among Japanese, the authors performed a meta-analysis of existing epidemiological studies. The authors first examined whether current alcohol consumption could potentially increase the risk of lung cancer without considering confounding factors. The summary risk estimate based on then random effects model for current consumption was 0.65 (95% confidence interval (CI) = 0.53 - 0.77). This risk estimate might be biased due to uncontrolled confounders, especially smoking cigarettes which is highly correlated with alcohol consumption. After adjustment for cigarette smoking, the summary risk estimate based on the random effects model for current alcohol consumption was no longer statistically significant (summary risk = 1.00, 95% CI = 0.73 - 1.26). Our results do not indicate that alcohol consumption serves as a major risk factor for lung cancer among Japanese. Additional studies with detailed assessments of alcohol consumption and potential confounding factors will undoubtedly lead to a better understanding of the role of alcohol consumption in lung cancer development.
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Sex differences in lung cancer susceptibility: a review.
Gend Med
PUBLISHED: 08-09-2010
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Several epidemiologic and molecular epidemiologic studies have indicated that, for a given number of cigarettes smoked, women may be at higher risk of lung cancer compared with men.
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Alcohol drinking and risk of Parkinsons disease: a case-control study in Japan.
BMC Neurol
PUBLISHED: 07-29-2010
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Although some epidemiologic studies found inverse associations between alcohol drinking and Parkinsons disease (PD), the majority of studies found no such significant associations. Additionally, there is only limited research into the possible interactions of alcohol intake with aldehyde dehydrogenase (ALDH) 2 activity with respect to PD risk. We examined the relationship between alcohol intake and PD among Japanese subjects using data from a case-control study.
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Evidence that genetic variants of metabolic detoxication and cell cycle control are not related to gallbladder cancer risk in Chilean women.
Int. J. Biol. Markers
PUBLISHED: 06-15-2010
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High consumption of red chili pepper has been shown to be a risk factor for gallbladder cancer (GBC) in Chilean women. However, genetic factors in addition to this and other environmental factors may also be associated with an increased risk of GBC. We aimed to examine the associations of cytochrome P450 1A1 (CYP1A1), glutathione S-transferase class mu (GSTM1), and tumor protein p53 (TP53) polymorphisms with the risk of GBC in Chilean women.
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Lung cancer risk and genetic polymorphisms in DNA repair pathways: a meta-analysis.
J Nucleic Acids
PUBLISHED: 05-31-2010
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Genetic variations in DNA repair genes are thought to modulate DNA repair capacity and are suggested to be related to lung cancer risk. We conducted a meta-analysis of epidemiologic studies on the association between genetic polymorphisms in both base excision repair and nucleotide excision repair pathways, and lung cancer. We found xeroderma pigmentosum complementation group A (XPA) G23A (odds ratio (OR) = 0.76, 95% confidence interval (CI) = 0.61-0.94), 8-oxoguanine DNA glycosylase 1 (OGG1) Ser326Cys (OR = 1.22, 95%?CI = 1.02-1.45), and excision repair cross-complementing group 2 (ERCC2) Lys751Gln (OR = 1.27, 95%?CI = 1.10-1.46) polymorphisms were associated with lung cancer risk. Considering the data available, it can be conjectured that if there is any risk association between a single SNP and lung cancer, the risk fluctuation will probably be minimal. Advances in the identification of new polymorphisms and in high-throughput genotyping techniques will facilitate the analysis of multiple genes in multiple DNA repair pathways. Therefore, it is likely that the defining feature of future epidemiologic studies will be the simultaneous analysis of large samples of cases and controls.
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Cigarette smoking, TP53 Arg72Pro, TP53BP1 Asp353Glu and the risk of lung cancer in a Japanese population.
Oncol. Rep.
PUBLISHED: 04-08-2010
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The tumor suppressor protein p53 (TP53) plays a central role in directing cellular responses to DNA damage. Tumor protein 53-binding protein 1 (TP53BP1) binds to TP53 and has a potential role in DNA damage responses. DNA damage-dependent interaction between TP53 and TP53BP1 may contribute to lung cancer risk. We aimed to assess whether or not TP53 and TP53BP1 genetic polymorphisms modulate lung cancer susceptibility in a Japanese population. We investigated the relationship of the TP53 Arg72Pro and TP53BP1 Asp353Glu polymorphisms to lung cancer risk with special reference to polymorphism-polymorphism and polymorphism-smoking interactions among 462 lung cancer cases and 379 controls. The Glu/Glu genotype of TP53BP1 Asp353Glu polymorphism was associated with a decreased risk of lung cancer [odds ratio (OR) = 0.46, 95% confidence interval (CI) = 0.29-0.74]. There was no polymorphism-smoking interaction. A combination of the Pro allele carriage of the TP53 Arg72Pro polymorphism and the Glu/Glu genotype of the TP53BP1 Asp353Glu polymorphism was associated with a decreased risk of lung cancer (OR=0.38, 95% CI=0.17-0.83). The multiplicative interaction measure was statistically significant (OR for interaction = 2.93, 95% CI=1.24-6.93). The relative excess risk due to interaction and attributable proportion due to interaction were 0.74 (95% CI=0.38-1.20) and 0.63 (95% CI=0.05-1.21), respectively. Both the additive interaction measures were not equal to zero, suggesting that the existence of a biological interaction. Our findings indicate the possible association of the Glu allele of the TP53BP1 Asp353Glu polymorphism with lower risk of lung cancer especially among the Pro allele carriers of the TP53 Arg72Pro polymorphism.
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LRRK2 Gly2385Arg polymorphism, cigarette smoking, and risk of sporadic Parkinsons disease: a case-control study in Japan.
J. Neurol. Sci.
PUBLISHED: 03-29-2010
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Previous case-control studies in Japanese and ethnic Chinese populations reported that the LRRK2 Gly2385Arg variant is a risk factor for Parkinsons disease (PD). We aimed to validate the previous findings and investigate whether cigarette smoking influences the relationship between the Gly2385Arg variant and PD. Included were 229 cases within 6years of onset of sporadic PD. Controls were 358 inpatients and outpatients without a neurodegenerative disease. The frequency of the heterozygous genotype was 13.1% of cases and 6.4% of controls: adjusted OR for the GA genotype was 2.06 (95% CI: 1.15-3.69). Compared with subjects with the GG genotype who had ever smoked, those with the GA genotype who had never smoked had a 5.8-fold increased risk of sporadic PD. The multiplicative interaction between the SNP and smoking was not statistically significant. With respect to the additive interaction, the estimated attributable proportion due to interaction (AP), but not relative excess risk due to interaction or the synergy index, was statistically significant (AP=0.50, 95% CI: 0.05-0.94), suggesting the presence of a biological interaction. The present study confirms that the LRRK2 Gly2385Arg variant is a risk factor for sporadic PD. In addition, we provide new evidence for the biological interaction between the polymorphism and smoking with regard to the risk of sporadic PD.
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Dietary intake of folate, vitamin B6, vitamin B12 and riboflavin and risk of Parkinsons disease: a case-control study in Japan.
Br. J. Nutr.
PUBLISHED: 03-26-2010
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Increased homocysteine levels might accelerate dopaminergic cell death in Parkinsons disease (PD) through neurotoxic effects; thus, increasing intake of B vitamins involved in the regulation of homocysteine metabolism might decrease the risk of PD through decreasing plasma homocysteine. However, epidemiological evidence for the association of dietary B vitamins with PD is sparse, particularly in non-Western populations. We conducted a hospital-based case-control study in Japan to examine associations between dietary intake of folate, vitamin B6, vitamin B12 and riboflavin and the risk of PD. Patients with PD diagnosed using the UK PD Society Brain Bank criteria (n 249) and controls without neurodegenerative diseases (n 368) were recruited. Dietary intake during the preceding month was assessed at the time of study recruitment using a validated, self-administered, semi-quantitative, comprehensive diet history questionnaire. After adjustment for potential dietary and non-dietary confounding factors, intake of folate, vitamin B12 and riboflavin was not associated with the risk of PD (P for trend = 0.87, 0.70 and 0.11, respectively). However, low intake of vitamin B6 was associated with an increased risk of PD, independent of potential dietary and non-dietary confounders. Multivariate OR (95 % CI) for PD in the first, second, third and fourth quartiles of vitamin B6 were 1 (reference), 0.56 (0.33, 0.94), 0.69 (0.38, 1.25) and 0.48 (0.23, 0.99), respectively (P for trend = 0.10). In conclusion, in the present case-control study in Japan, low intake of vitamin B6, but not of folate, vitamin B12 or riboflavin, was independently associated with an increased risk of PD.
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Case-control study of eczema associated with IL13 genetic polymorphisms in Japanese children.
Int. Arch. Allergy Immunol.
PUBLISHED: 03-16-2010
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Several association studies have investigated the relationships between single nucleotide polymorphisms (SNPs) in the IL13 gene and eczema, with inconsistent results. We conducted a case-control study of the relationship between the polymorphisms of rs1800925 and rs20541 and the risk of eczema in Japanese children aged 3 years.
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International Lung Cancer Consortium: coordinated association study of 10 potential lung cancer susceptibility variants.
Carcinogenesis
PUBLISHED: 01-27-2010
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Analysis of candidate genes in individual studies has had only limited success in identifying particular gene variants that are conclusively associated with lung cancer risk. In the International Lung Cancer Consortium (ILCCO), we conducted a coordinated genotyping study of 10 common variants selected because of their prior evidence of an association with lung cancer. These variants belonged to candidate genes from different cancer-related pathways including inflammation (IL1B), folate metabolism (MTHFR), regulatory function (AKAP9 and CAMKK1), cell adhesion (SEZL6) and apoptosis (FAS, FASL, TP53, TP53BP1 and BAT3).
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Genetic variants involved in gallstone formation and capsaicin metabolism, and the risk of gallbladder cancer in Chilean women.
World J. Gastroenterol.
PUBLISHED: 01-19-2010
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To determine the effects of genetic variants associated with gallstone formation and capsaicin (a pungent component of chili pepper) metabolism on the risk of gallbladder cancer (GBC).
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Case-control study of risk of Parkinsons disease in relation to hypertension, hypercholesterolemia, and diabetes in Japan.
J. Neurol. Sci.
PUBLISHED: 01-15-2010
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This case-control study investigated the associations of a history of hypertension, hypercholesterolemia, and diabetes mellitus with the risk of Parkinsons disease (PD) in Japan. Included were 249 cases within 6 years of onset of PD. Controls were 368 inpatients and outpatients without a neurodegenerative disease. Data on the vascular risk factors and confounders were obtained from a self-administered questionnaire. The vascular risk factors were defined based on drug treatment. Adjustment was made for sex, age, region of residence, pack-years of smoking, years of education, leisure-time exercise, body mass index, dietary intake of energy, cholesterol, vitamin E, alcohol, and coffee and the dietary glycemic index. The proportions of hypertension, hypercholesterolemia, and diabetes mellitus prior to the onset of PD were 23.7%, 9.6%, and 4.0%, respectively, in cases. Hypertension, hypercholesterolemia, and diabetes mellitus were significantly associated with a decreased risk of PD: the adjusted ORs were 0.43 (95% CI: 0.29-0.64), 0.58 (95% CI: 0.33-0.97), and 0.38 (95% CI: 0.17-0.79), respectively. No significant differences were observed in the association of vascular risk factors with the risk of PD between men and women. We found evidence of significant inverse associations of hypertension, hypercholesterolemia, and diabetes mellitus with the risk of PD in Japan. Further well-designed investigations of the association of vascular risk factors with the risk of PD are needed, particularly large-scale prospective studies in Asia.
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Maternal smoking during pregnancy and offspring attention-deficit/hyperactivity disorder: a case-control study in Japan.
Atten Defic Hyperact Disord
PUBLISHED: 09-25-2009
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Although maternal smoking during pregnancy has been shown to be associated with an increased risk of offspring attention-deficit/hyperactivity disorder (ADHD) in Western countries, there is no empirical evidence in non-Caucasian. Purpose of the present study is to examine the relationship between maternal smoking during pregnancy and offspring ADHD in Japanese population. A case-control study design was adopted. A total of 90 pairs of children with ADHD and mothers as well as 270 corresponding control pairs were recruited throughout the study period. A psychiatrist interviewed all the mothers of children with ADHD and control children and elicited information regarding their lifestyles during pregnancy, including active and passive smoking or drinking habits, as well as psychosocial and perinatal factors. Diagnosis of ADHD was made by each physician in charge according to DSM-IV diagnostic criteria. Logistic regression analysis was used to calculate odds ratios (OR) and 95% confidence intervals (CI) with adjustments for other possible confounding factors. Maternal active smoking during pregnancy was associated with an approximately twofold increased risk of offspring ADHD, even after adjusting for socioeconomic and perinatal confounding factors (OR 1.8 95% CI 0.9-3.6). However, the association was obviously attenuated when factors regarding parental psychopathological vulnerability were controlled (OR 1.3 95% CI 0.6-2.9). On the other hand, maternal passive smoking during pregnancy failed to show any material association with ADHD. These results suggested that a significant part of the association between maternal smoking during pregnancy, and ADHD might be explained by genetic factors including parental psychopathological vulnerability.
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Cigarette smoking, STAT4 and TNFRSF1B polymorphisms, and systemic lupus erythematosus in a Japanese population.
J. Rheumatol.
PUBLISHED: 08-14-2009
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Recent studies have identified signal transducer and activator of transcription 4 (STAT4) as a susceptibility gene for systemic lupus erythematosus (SLE) in different populations. Similarly, tumor necrosis factor receptor superfamily, member 1B (TNFRSF1B) has been reported to be associated with SLE risk in Japanese populations. Along with environmental factors such as smoking, both polymorphisms may modulate an individuals susceptibility to SLE. We investigated these relationships in a case-control study to evaluate risk factors for SLE among Japanese women.
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Dietary fat intake and risk of Parkinsons disease: a case-control study in Japan.
J. Neurol. Sci.
PUBLISHED: 06-27-2009
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The present case-control study examined the relationship between dietary intake of individual fatty acids and the risk of Parkinsons disease (PD) in Japan. Included were 249 cases within 6 years of onset of PD. Controls were 368 inpatients and outpatients without a neurodegenerative disease. Information on dietary factors was collected using a validated self-administered diet history questionnaire. Compared with arachidonic acid intake in the first quartile, consumption of that in the fourth quartile was significantly related to an increased risk of PD: the adjusted odds ratio between extreme quartiles was 2.09 (95% confidence interval: 1.21-3.64, P for trend=0.008). Cholesterol intake was also significantly positively associated with the risk of PD: the adjusted odds ratio between extreme quartiles was 1.78 (95% confidence interval: 1.04-3.05, P for trend=0.01). Consumption of total fat, saturated fatty acids, monounsaturated fatty acids, n-3 polyunsaturated fatty acids, alpha-linolenic acid, eicosapentaenoic acid, docosahexaenoic acid, n-6 polyunsaturated fatty acids, and linoleic acid and the ratio of n-3 to n-6 polyunsaturated fatty acid intake were not associated with PD. Higher consumption of arachidonic acid and cholesterol may be related to an increased risk of PD.
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Combination of TNF-RII, CYP1A1 and GSTM1 polymorphisms and the risk of Japanese SLE: findings from the KYSS study.
Rheumatology (Oxford)
PUBLISHED: 06-26-2009
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Association of the polymorphisms of the genes, TNF receptor type II gene (TNF-RII), cytochrome P4501A1 gene (CYP1A1) and glutathione S-transferase M1 gene (GSTM1), with SLE was investigated. TNF-RII mediates inflammatory and immune response, whereas CYP1A1 and GSTM1 are involved in the metabolism of xenobiotics. These three genes are involved in the generation of reactive oxygen species (ROS), which play a critical role for autoimmune diseases.
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Prevalence of and risk factors for low bone mineral density in Japanese female patients with systemic lupus erythematosus.
Rheumatol. Int.
PUBLISHED: 06-09-2009
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To examine the prevalence of and risk factors for low bone mineral density (BMD) (osteoporosis or osteopenia) in Japanese female patients with systemic lupus erythematosus (SLE). We performed BMD measurements by dual X-ray absorptiometry at the lumbar spine and the hip and collected basic and lifestyle-related, clinical and treatment characteristics among 58 SLE patients. Odds ratios (ORs) and their 95% confidence intervals (CIs) were assessed for associations between low BMD and selected factors among SLE patients. The mean BMD ± SD was 0.90 ± 0.17 g/cm(2) at the lumbar spine and 0.76 ± 0.17 g/cm(2) at the hip. The prevalence of osteopenia (2.5 SD < T score < 1 SD) was 50.0% and that of osteoporosis (T score < 2.5 SD) was 13.8% in our SLE patients. After adjustment for age and disease duration, we found the number of deliveries (OR = 5.58, 95% CI = 1.31-26.06; P = 0.02) to be a risk factor for overall low BMD (T score < 1 SD) and a maximal dosage of >50 mg/day of oral corticosteroids (OR = 0.25, 95% CI = 0.07-0.91; P = 0.035) as a preventive factor for low BMD at the lumbar spine. Reduced BMD, especially in spinal trabecular bone, was pronounced in Japanese female patients with SLE, particular in those with a history of delivery. A history of high-dose oral corticosteroids was associated with the preservation of BMD at the lumbar spine, however, further study is needed considering the limited sample size.
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Breastfeeding and atopic eczema in Japanese infants: The Osaka Maternal and Child Health Study.
Pediatr Allergy Immunol
PUBLISHED: 05-15-2009
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Epidemiological studies associated with breastfeeding have provided conflicting results about whether it is preventive or a risk factor for atopic eczema in children. The current prospective study investigated the relationship between breastfeeding and the risk of atopic eczema in Japan. A birth cohort of 763 infants was followed. The first survey during pregnancy and the second survey between 2 and 9 months postpartum collected information on potential confounding factors and atopic eczema status. Data on breastfeeding and symptoms of atopic eczema were obtained from questionnaires in the third survey from 16 to 24 months postpartum. The following variables were a priori selected as potential confounders: maternal age, maternal and paternal history of asthma, atopic eczema, and allergic rhinitis, indoor domestic pets (cats, dogs, birds, or hamsters), family income, maternal and paternal education, maternal smoking during pregnancy, babys sex, babys birth weight, babys older siblings, household smoking in the same room as the infant, and time of delivery before the third survey. In the third survey, 142 infants (18.6%) were revealed to have developed atopic eczema based on criteria of the International Study of Asthma and Allergies in Childhood. In an overall analysis, neither exclusive nor partial breastfeeding was significantly related to the risk of atopic eczema. After excluding 64 infants identified with suspected atopic eczema in the second survey, both exclusive breastfeeding for 4 months or more and partial breastfeeding for 6 months or more were independently associated with an increased risk of atopic eczema only among infants with no parental history of allergic disorders [multivariate odds ratios were 2.41 (95% confidence interval, 1.10-5.55) and 3.39 (95% confidence interval, 1.20-12.36), respectively]. The authors found that, overall, neither exclusive nor partial breastfeeding had a strong impact on the risk of atopic eczema. However, a parental allergic history may affect the risk.
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Influence of antibiotic exposure in the early postnatal period on the development of intestinal microbiota.
FEMS Immunol. Med. Microbiol.
PUBLISHED: 04-06-2009
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The influence of antibiotic exposure in the early postnatal period on the development of intestinal microbiota was monitored in 26 infants including five antibiotic-treated (AT) subjects orally administered a broad-spectrum antibiotic for the first 4 days of life and three caesarean-delivered (CD) subjects whose mothers were intravenously injected by the similar type of antibiotics in the same period. The faecal bacterial composition was analysed daily for the first 5 days and monthly for the first 2 months. Terminal restriction fragment length polymorphisms in the AT subjects showed less diversity with the attenuation of the colonization of some bacterial groups, especially in Bifidobacterium and unusual colonization of Enterococcus in the first week than the control antibiotic-free infants (AF, n=18). Quantitative real-time PCR showed overgrowth of enterococci (day 3, P=0.01; day 5, P=0.003; month 1, P=0.01) and arrested growth of Bifidobacterium (day 3, P=0.03) in the AT group. Furthermore, after 1 month, the Enterobacteriaceae population was markedly higher in the AT group than in the AF group (month 1, P=0.02; month 2, P=0.02). CD infants sustained similar, although relatively weaker, alteration in the developing microbiota. These results indicate that antibiotic exposure at the beginning of life greatly influences the development of neonatal intestinal microbiota.
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Meta- and pooled analysis of GSTP1 polymorphism and lung cancer: a HuGE-GSEC review.
Am. J. Epidemiol.
PUBLISHED: 02-24-2009
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Lung cancer is the most common cancer worldwide. Polymorphisms in genes associated with carcinogen metabolism may modulate risk of disease. Glutathione S-transferase pi (GSTP1) detoxifies polycyclic aromatic hydrocarbons found in cigarette smoke and is the most highly expressed glutathione S-transferase in lung tissue. A polymorphism in the GSTP1 gene, an A-to-G transition in exon 5 (Ile105Val, 313A --> 313G), results in lower activity among individuals who carry the valine allele. The authors present a meta- and a pooled analysis of case-control studies that examined the association between this polymorphism in GSTP1 and lung cancer risk (27 studies, 8,322 cases and 8,844 controls and 15 studies, 4,282 cases and 5,032 controls, respectively). Overall, the meta-analysis found no significant association between lung cancer risk and the GSTP1 exon 5 polymorphism. In the pooled analysis, there was an overall association (odds ratio = 1.11, 95% confidence interval: 1.03, 1.21) between lung cancer and carriage of the GSTP1 Val/Val or Ile/Val genotype compared with those carrying the Ile/Ile genotype. Increased risk varied by histologic type in Asians. There appears to be evidence for interaction between amount of smoking, the GSTP1 exon 5 polymorphism, and risk of lung cancer in whites.
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Molecular epidemiology of major depressive disorder.
Environ Health Prev Med
PUBLISHED: 01-20-2009
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Major depressive disorder causes significant morbidity, affecting peoples ability to work, function in relationships, and engage in social activities. Moreover, major depressive disorder increases the risk of suicidal ideation, attempted suicide and death by completed suicide. There is evidence that chronic stress can cause major depressive disorder. As for genetic factors, only minor susceptibility genes have been reliably identified. The serotonin system provides a logical source of susceptibility genes for depression, because this system is the target of selective serotonin reuptake-inhibitor drugs that are effective in treating depression. The 5-hydroxytryptamine (serotonin) transporter (5-HTT) has received particular attention because it is involved in the reuptake of serotonin at brain synapses. One common polymorphic variant of the 5-HTT-linked polymorphic region (5-HTTLPR), which affects the promoter of the 5-HTT gene, causes reduced uptake of the neurotransmitter serotonin into the presynaptic cells in the brain. The authors discussed the relationship between genetic polymorphisms and major depressive disorder, with special emphasis on the 5-HTTTLPR polymorphism. As the 5-HTTLPR polymorphism was significantly associated with an increased risk of major depressive disorder, the 5-HTT gene may be a candidate for a major depressive disorder susceptibility gene. As major depressive disorder is a multifactorial disease, an improved understanding of the interplay of environmental and genetic polymorphisms at multiple loci may help identify individuals who are at increased risk for major depressive disorder. Hopefully, in the future we will be able to screen for major depressive disorder susceptibility by using specific biomarkers.
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ADAM33 genetic polymorphisms and risk of atopic dermatitis among Japanese children.
Clin. Biochem.
PUBLISHED: 01-17-2009
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ADAM33, a disintegrin and metalloproteinase 33, gene has been identified as an asthma susceptibility gene. The relationship between single nucleotide polymorphisms (SNPs) in ADAM33 and atopic dermatitis (AD) in Japanese children was examined using case-control design.
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Dietary glycemic index is inversely associated with the risk of Parkinsons disease: a case-control study in Japan.
Nutrition
PUBLISHED: 01-15-2009
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High glycemic index (GI) or glycemic load (GL) carbohydrates might be expected to decrease the risk of Parkinsons disease (PD) by an insulin-induced increase in brain dopamine. We conducted a hospital-based case-control study in Japan to examine associations between dietary GI and GL and other dietary carbohydrate variables, including intake of available carbohydrate and dietary fiber, and PD.
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Serum progranulin levels are elevated in patients with systemic lupus erythematosus, reflecting disease activity.
Arthritis Res. Ther.
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ABSTRACT: INTRODUCTION: Progranulin (PGRN) is the precursor of granulin (GRN), a soluble cofactor for toll-like receptor 9 (TLR9) signaling evoked by oligonucleotide (CpG)-DNA. Because TLR9 signaling plays an important role in systemic lupus erythematosus (SLE), we investigated whether PGRN is involved in the pathogenesis of SLE. METHODS: We measured concentrations of serum PGRN and interleukin-6 (IL-6) with enzyme-linked immunosorbent assay (ELISA) in patients with SLE (n = 68) and in healthy controls (n = 60). We assessed the correlation between the serum PGRN levels and established disease-activity indexes. The sera from the patients with high PGRN titers (>80 ng/ml) at the initial evaluation were reevaluated after the disease was ameliorated by treatment. We also measured the IL-6 concentration secreted by peripheral blood mononuclear cells (PBMCs) incubated with (a) oligonucleotide (CpG-B) in the presence or absence of recombinant human PGRN (rhPGRN); and (b) lupus sera in the presence or absence of a neutralizing anti-PGRN antibody. RESULTS: Serum PGRN levels were significantly higher in SLE patients than healthy controls. Their levels were significantly associated with activity of clinical symptoms. They also significantly correlated with values of clinical parameters, including the SLE Disease Activity Index and anti-double-stranded DNA antibody titers, and inversely with CH50, C3, and C4 levels. Moreover, serum PGRN levels significantly decreased after successful treatment of SLE. The rhPGRN significantly upregulated the production of IL-6 by PBMCs stimulated with CpG-B. Patients sera stimulated production of IL-6 from PBMCs, which was significantly impaired by neutralization of PGRN. The serum PGRN levels significantly correlated with the serum IL-6 levels. CONCLUSIONS: Serum PGRN could be a useful biomarker for disease activity of SLE. PGRN may be involved in the pathogenesis of SLE partly by enhancing the TLR9 signaling.
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Lack of association between BST1 polymorphisms and sporadic Parkinsons disease in a Japanese population.
J. Neurol. Sci.
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Several genome-wide association studies and case-control studies have investigated the relationships between single nucleotide polymorphisms (SNPs) in the BST1 gene and Parkinsons disease (PD), but the results have been inconsistent. We examined the relationships between SNPs rs11931532, rs12645693, and rs11724635 and the risk of sporadic PD in Japan. Included were 229 cases within 6years of onset of PD as defined according to the UK PD Society Brain Bank clinical diagnostic criteria. Controls were 357 inpatients and outpatients without neurodegenerative disease. SNPs rs11931532 and rs12645693 were not significantly related to sporadic PD. Compared with a reference group of subjects with the CC genotype of SNP rs11724635, those with the AA genotype had a marginally significantly increased risk of sporadic PD: the adjusted OR was 1.57 (95% CI: 0.95-2.61, P=0.08). No significant interactions were found between BST1 SNP rs11724635 and smoking or caffeine intake with respect to sporadic PD. The current study failed to detect significant relationships between BST1 SNPs rs11931532, rs12645693, and rs11724635 and sporadic PD; however, the relationship between SNP rs11724635 and sporadic PD was of borderline significance. We do not find evidence for interactions between smoking or caffeine intake and SNP rs11724635 affecting sporadic PD.
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MDR1 C3435T polymorphism and interaction with environmental factors in risk of Parkinsons disease: a case-control study in Japan.
Drug Metab. Pharmacokinet.
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It has been suggested that P-glycoprotein (P-gp), the product of multidrug resistance 1 (MDR1) gene, regulates the brain entry of various xenobiotics. Impaired function of P-gp may be associated with an increased risk of Parkinsons disease (PD). The aim of this study was to investigate the impact of a MDR1 C3435T polymorphism on PD risk alone or in combination with environmental factors. A total of 238 patients with PD and 368 controls were genotyped for the MDR1 C3435T polymorphism. Subjects with the TT genotype of the C3435T polymorphism showed a nonsignificantly increased risk of PD [odds ratio (OR)=1.49, 95% confidence interval (CI)=0.85-2.25] compared with those with the CC genotype. A gene-environment interaction was suggested, with a combination of at least one T allele and ever drinking conferring significantly higher risk (OR=1.83, 95% CI=1.07-3.15, p=0.029), compared with the CC genotype and never drinking. No significant interaction of smoking or occupational pesticide use with the C3435T polymorphism was observed. Our results suggest that the C3435T polymorphism may not play an important role in PD susceptibility in Japanese. Evidence of an interaction between the C3435T polymorphism and alcohol consumption was suggested.
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Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) in Japan: a review of the literature.
Mod Rheumatol
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Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) is a dominantly inherited autoinflammatory syndrome that is characterized by recurrent episodes of fever attacks associated with rashes, abdominal pain, myalgia, conjunctivitis, chest pain, and arthralgia. Some patients have severe abdominal pain leading to abdominal surgery. Most reported cases of TRAPS involve patients of European ancestry, but there have been nine reports of patients with TRAPS in Japan. Here, we review these nine case reports. Reported TNFRSF1A gene mutations in these nine index patients were C70S, T61I, C70G, C30Y, C30R, N101K, and N25D. Fever (100 %) was seen in all 23 cases. Most patients developed rash (erythema) (84.6 %) and arthralgia (73.3 %), and half suffered from myalgia (54.5 %) and abdominal pain (50.0 %). Although one-half of the patients suffered from abdominal pain, none underwent surgery. In contrast, only a small percentage of patients suffered from chest pain (20.0 %), conjunctivitis (20.0 %), and headache (10.0 %). Almost all cases (95.7 %) concerned patients whose relatives suffered from periodic fever. These findings suggest that the clinical features of Japanese TRAPS patients may be milder than those of patients in Western countries.
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UCHL1 S18Y variant is a risk factor for Parkinsons disease in Japan.
BMC Neurol
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A recent meta-analysis on the UCHL1 S18Y variant and Parkinsons disease (PD) showed a significant inverse association between the Y allele and PD; the individual studies included in that meta-analysis, however, have produced conflicting results. We examined the relationship between UCHL1 S18Y single nucleotide polymorphism (SNP) and sporadic PD in Japan.
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Cigarette smoking, alcohol consumption, and risk of systemic lupus erythematosus: a case-control study in a Japanese population.
J. Rheumatol.
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Cigarette smoking may be associated with increased risk of systemic lupus erythematosus (SLE), whereas the role of alcohol consumption is unknown. We examined the association between SLE risk and smoking or drinking.
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Genetic polymorphisms involved in carcinogen metabolism and DNA repair and lung cancer risk in a Japanese population.
J Thorac Oncol
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Several components of overall lung carcinogenesis, carcinogen metabolic and DNA repair pathways may be involved in individual genetic susceptibility to lung cancer.
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Increased risk of lung cancer in individuals with a family history of the disease: a pooled analysis from the International Lung Cancer Consortium.
Eur. J. Cancer
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Familial aggregation of lung cancer exists after accounting for cigarette smoking. However, the extent to which family history affects risk by smoking status, histology, relative type and ethnicity is not well described. This pooled analysis included 24 case-control studies in the International Lung Cancer Consortium. Each study collected age of onset/interview, gender, race/ethnicity, cigarette smoking, histology and first-degree family history of lung cancer. Data from 24,380 lung cancer cases and 23,305 healthy controls were analysed. Unconditional logistic regression models and generalised estimating equations were used to estimate odds ratios and 95% confidence intervals.
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SNCA polymorphisms, smoking, and sporadic Parkinsons disease in Japanese.
Parkinsonism Relat. Disord.
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Several case-control studies and genome-wide association studies have examined the relationships between single nucleotide polymorphisms (SNPs) in the SNCA gene and Parkinsons disease (PD), and have provided inconsistent results. We investigated the relationships between SNPs rs356229, rs356219, rs356220, rs7684318, and rs2736990 and the risk of sporadic PD in Japan using data from a multicenter hospital-based case-control study. Included were 229 cases within 6 years of onset of PD as defined according to the UK PD Society Brain Bank clinical diagnostic criteria. Controls were 357 inpatients and outpatients without neurodegenerative disease. Adjustment was made for sex, age, region of residence, and smoking. Based on the recessive model, compared with subjects with the CC or CT genotype of SNP rs356220, those with the TT genotype had a significantly increased risk of sporadic PD: the adjusted OR was 1.42 (95% CI: 1.002-2.02). In the additive model, SNP rs2736990 was significantly related to the risk of sporadic PD: the adjusted OR was 1.30 (95% CI: 1.002-1.68). There were no significant relationships between SNP rs356229, rs356219, or rs7684318 and the risk of sporadic PD in any genetic model. The additive interactions between SNPs rs356219 and rs356220 and smoking with respect to sporadic PD were significant although the multiplicative interactions were not significant. This study suggests that SNCA SNPs rs356220 and rs2736990 are significantly associated with the risk of sporadic PD in Japanese. We also present new evidence for biological interactions between SNPs rs356219 and rs356220 and smoking that affect sporadic PD.
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