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"What next for GWAS ? – how can human genetics inform us about
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Abstract: Genome wide association studies (GWAS) have identified many hundreds of variants associated with disease and disease related traits. Studies now routinely include 10,000s, and for some diseases, 100,000s of cases and identify 100s to 1000s of variants. A recent GWAS of adult height identified associated variants across the entire genome, in keeping with heritability studies that show heritability per chromosome is proportional to chromosome size. However, despite this apparent saturation of information, these data are often just the start of further experiments and understanding. I will discuss some of them including i) using genetic variants as proxies for therapies, including a recent example in the Erythropoietin gene as a proxy for EPO increasing therapies to treat anaemia in chronic kidney disease ii) using subsets of genetic variants as more refined instruments in mendelian randomisation , including our recent work “uncoupling” higher adiposity from its adverse metabolic consequences and testing the role of high childhood body mass index (BMI) separately from adult BMI; and iii) using common variants to identify people with phenotypes that are unexpected given their polygenic profile. Finally I will discuss the “next generation” of GWAS – that using whole genome sequencing and rarer variation.
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Bio: Prof. Frayling has been working as a molecular geneticist for more than twenty years, the majority of that time with common human traits and diseases, particularly type 2 diabetes, obesity and related conditions. He obtained a personal chair as Professor of Human Genetics in 2007 and heads a team of 14 that has become internationally recognized as a world leader in the genetics of common traits and conditions.
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