Five years of GWAS discovery.

Journal article

The past five years have seen many scientific and biological discoveries made through the experimental design of genome-wide association studies (GWASs). These studies were aimed at detecting variants at genomic loci that are associated with complex traits in the population and, in particular, at detecting associations between common single-nucleotide polymorphisms (SNPs) and common diseases such as heart disease, diabetes, auto-immune diseases, and psychiatric disorders. We start by giving a number of quotes from scientists and journalists about perceived problems with GWASs. We will then briefly give the history of GWASs and focus on the discoveries made through this experimental design, what those discoveries tell us and do not tell us about the genetics and biology of complex traits, and what immediate utility has come out of these studies. Rather than giving an exhaustive review of all reported findings for all diseases and other complex traits, we focus on the results for auto-immune diseases and metabolic diseases. We return to the perceived failure or disappointment about GWASs in the concluding section.

Authors: Visscher, P; Brown, M; McCarthy, M; Yang, J

• Publication status: Published
• Journal: American journal of human genetics
• Volume: 90
• Issue: 1
• Pages: 7-24
• Publication date: 2012-01-01
• DOI: 10.1016/j.ajhg.2011.11.029
• EISSN: 1537-6605
• ISSN: 0002-9297
• Language: English
• Keywords: Autoimmune Diseases; History, 21st Century; Genetic Linkage; Genetic Predisposition to Disease; Female; Humans; Genome-Wide Association Study; Male; Translational Medical Research; Metabolic Diseases; Genetic Loci