Study Design. A genetic association study of estrogen receptor 2 gene (ESR2)polymorphisms in idiopathic scoliosis (IS).Objectives. To investigate association of the ESR2 polymorphisms with either predisposition to or progression of IS in Central European population.Summary of Background Data. In ESR2 the rs1256120 polymorphism was described to be associated with predisposition to and severity of IS in Chinese population. This observation has not been confirmed in Japanese population. The ESR2 rs4986938 and rs1256049 polymorphisms were described to present association with breast cancer, rheumatoid arthritis and bone mineral density, however the association with IS has not been evaluated.Methods. Case-control study of 248 females with IS and 243 healthy females was performed. Three SNPs were studied using PCR-RFLP technique with the restriction enzymes: AlwNI (C/T rs1256120), AluI (A/G rs4986938) and RsaI (A/G rs1256049). The patients' medical history was evaluated, Cobb angle was measured and surgery rate established. The patients were analyzed in three subgroups according to curve progression velocity.Results. Neither the genotypes nor alleles distribution showed significant differences between IS patients and healthy controls. There was no significant difference in genotype or allele frequency. In the AluI site polymorphism a significant difference in mean Cobb angle between genotypes was found: (AA 31.9°±14.2°, AG 43.2°±17.8° and GG 38.9°±19.0°), p = 0.002. There was significant difference in genotypes distribution between patients with moderate (<40°) versus severe (?40°) scoliosis, p = 0.0011; the minor allele frequency (AA) in recessive model of penetration was overrepresented in patients with Cobb angle below 40°, p = 0.0075, odds ratio = 3.65.Conclusions. No association between ESR2 polymorphism and predisposition to IS was found in Caucasian females. None of the previously reported associations of AlwNI site polymorphism could be confirmed. ESR2 AluI site polymorphism may be associated with curve severity.
XbaI single nucleotide polymorphism (SNP) (A/G rs934099) in estrogen receptor 1 gene (ESR1) was described to be associated with curve severity in Japanese idiopathic scoliosis (IS) patients and in Chinese patients with both curve severity and predisposition to IS. PvuII SNP (C/T rs2234693) of ESR1 was described to be associated with the occurrence of IS in the Chinese population; however, two replication studies did not confirm the findings. The ESR1 SNPs have never been studied in Caucasian IS patients.
The prognosis of germinal center-derived B-cell (GCB) lymphomas, including follicular lymphoma and diffuse large-B-cell lymphoma (DLBCL), strongly depends on age. Children have a more favorable outcome than adults. It is not known whether this is because of differences in host characteristics, treatment protocols, or tumor biology, including the presence of chromosomal alterations. By screening for novel IGH translocation partners in pediatric and adult lymphomas, we identified chromosomal translocations juxtaposing the IRF4 oncogene next to one of the immunoglobulin (IG) loci as a novel recurrent aberration in mature B-cell lymphoma. FISH revealed 20 of 427 lymphomas to carry an IG/IRF4-fusion. Those were predominantly GCB-type DLBCL or follicular lymphoma grade 3, shared strong expression of IRF4/MUM1 and BCL6, and lacked PRDM1/BLIMP1 expression and t(14;18)/BCL2 breaks. BCL6 aberrations were common. The gene expression profile of IG/IRF4-positive lymphomas differed from other subtypes of DLBCL. A classifier for IG/IRF4 positivity containing 27 genes allowed accurate prediction. IG/IRF4 positivity was associated with young age and a favorable outcome. Our results suggest IRF4 translocations to be primary alterations in a molecularly defined subset of GCB-derived lymphomas. The probability for this subtype of lymphoma significantly decreases with age, suggesting that diversity in tumor biology might contribute to the age-dependent differences in prognosis of lymphoma.
Recent studies propose the role of gonadotropins in the development and growth of endometrial carcinoma. The present research was undertaken to establish the expression of human chorionic gonadotropin (hCG), gonadotropin-releasing hormones 1 (GnRH1 and GnRH2, respectively) and their receptors in endometrial hyperplasias and carcinoma.
Deep paravertebral muscles and female sex hormones are potential elements participating in idiopathic scoliosis development. Estrogen acts through estrogen receptors: ESR1 and ESR2. There are no studies describing ESR2 expression in back muscles in girls with idiopathic scoliosis. The aim of this study was to evaluate ESR2 expression levels in back muscles on both sides of the spinal curve and correlation between the expression level and scoliosis parameters. Asymmetrical ESR2 expression in deep paravertebral muscles was found: 11 girls had higher expression level on the convex side and 5 girls had higher expression level on the concave side of the curvature. Patients with ESR2 (convex/concave) ratio ? 1 presented positive correlation between ESR2 ratio and Cobb angle.
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