JAMAevidence JAMA Guide to Statistics and Methods Genome-Wide Association Studies With Dr Rotter
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Sep 5, 2024 Jerome I. Rotter, an expert in translational genomics, joins JAMA Statistical Editor Roger J. Lewis to dive into Genome-Wide Association Studies (GWAS). They explore the differences between Mendelian and complex diseases, discussing how single base mutations lead to conditions like sickle cell anemia. The conversation covers polygenic diseases, highlighting the genetic variants behind ailments such as type 2 diabetes. They also tackle advancements in GWAS and the significance of SNPs, emphasizing the importance of diverse ethnic inclusion for reliable findings.
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Mendelian vs. Polygenic Diseases
- Mendelian diseases result from a single base pair change in the DNA code.
- Common chronic diseases like diabetes are polygenic, caused by hundreds of gene variants acting together.
GWAS Methodology
- Genome-wide association studies (GWAS) leverage the organized structure of genes on chromosomes.
- This allows researchers to identify genetic influences on diseases without prior knowledge of the specific causes.
SNPs and Genetic Variation
- SNPs are variations in single base pairs along the genome, occurring roughly every 100 base pairs.
- These variations can be compared between individuals with and without a disease to identify associations.