Disease Association Studies
Disease Association Studies - Related Videos
10:10
The Implicit Association Test
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2023
Source: Julian Wills & Jay Van Bavel—New York University One of the core constructs in social psychology is the notion of an attitude toward an object or person. Traditionally, psychologists measured attitudes by simply asking people to self-report their beliefs, opinions, or feelings. This approach has limitations, however, when measuring socially sensitive attitudes, like racial prejudice, because people are often motivated to self-report unprejudiced, egalitarian beliefs (despite...
02:37
Touch Habituation Assay: A Method to Study Non-Associative Learning in C. elegans
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2023
This video introduces the touch habituation assay, a C. elegans behavioral method of assessing mechanosensation and quantifying time to habituation.
01:11
Genome-wide Association Studies-GWAS
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2023
Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease. GWAS does not require the identification of the target gene involved in...
19:50
Interview: Protein Folding and Studies of Neurodegenerative Diseases
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Cited by 2 •
2008
In this interview, Dr. Lindquist describes relationships between protein folding, prion diseases and neurodegenerative disorders. The problem of the protein folding is at the core of the modern biology. In addition to their traditional biochemical functions, proteins can mediate transfer of biological information and therefore can be considered a genetic material. This recently discovered function of proteins has important implications for studies of human disorders. Dr. Lindquist also...
10:47
An Overview of Genetics and Disease
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2023
Many human diseases are associated with mutations or variations in genetic sequences. Some of these genetic variants are heritable, passed down from generation to generation, while others arise sporadically during an organism’s life and cause diseases such as cancer. Researchers are trying to identify and characterize these genetic alterations in the hopes of improving diagnosis and therapeutic options for patients.In this video, we will examine the history of genetic disease research, and...
FAQs
Population structure can create a misleading signal when cases and controls differ genetically for reasons unrelated to the disease. A variant may appear more common in the affected group because of that underlying structure, not because it influences health outcomes. Disease association studies therefore incorporate population structure into analysis to make the disease-related comparison more credible.
Examining allele frequencies asks whether individual versions of a variant differ between groups, whereas genotype frequencies consider the combinations of versions carried by each person. Statistical tests applied to these measurements estimate how strongly the observed pattern is associated with disease. Using these complementary summaries helps characterize the signal rather than relying on a single frequency comparison.
An association indicates that a variant occurs at different rates in cases and controls, but it does not establish causation. The associated marker requires functional investigation to determine how it relates to biology. Consequently, findings are best treated as starting points for studying biological pathways, rather than as proof of a direct disease mechanism.
Genome-wide association studies apply the case-control association strategy across many DNA markers rather than focusing on particular variants. This broad scope can reveal risk loci that might not have been selected in advance. The resulting loci provide candidates for follow-up work, including investigation of the biological pathways connected with disease.
Researchers assemble people with the disease and comparable unaffected controls, measure genotypes across the selected DNA markers, and compare allele or genotype frequencies between the groups. Statistical tests then estimate the strength of each association, while analysis accounts for population structure. This workflow produces candidate risk loci for later biological interpretation.
They are useful when researchers want to connect inherited DNA variation with health outcomes and prioritize genomic regions for further study. Findings can point toward risk loci and biological pathways that merit functional investigation. The same results may also support research on risk prediction or treatment, although their practical meaning depends on interpreting association without equating it with causation.