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Five Years of GWAS Discovery

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Visscher, Peter M., Brown, Matthew A., McCarthy, Mark I., Yang, Jian·2012·The American Journal of Human Genetics

DOI 10.1016/j.ajhg.2011.11.029PMC PMC3257326

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Abstract

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.

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Authors: Visscher, P. M., Brown, M. A., McCarthy, M. I., & Yang, J.
Affiliations: The University of Queensland (AU)
Centre for Human Genetics (GB)
QIMR Berghofer Medical Research Institute (AU)
Corresponding author: Visscher, Peter M.
ORCID: Visscher, Peter M.
Brown, Matthew A.
McCarthy, Mark I.
Yang, Jian
Venue: The American Journal of Human Genetics
Publisher: Elsevier BV
Published: 2012-01
Volume: 90
Issue: 1
Pages: 7-24
ISSN: 0002-9297 (ISSN-L)
DOI: 10.1016/j.ajhg.2011.11.029
PMC: PMC3257326
OpenAlex: W2163924952
Cited by: 2,425
References: 218
Citations by year: 2026: 52 · 2025: 97 · 2024: 120 · 2023: 130 · 2022: 133 · 2021: 154 · 2020: 176 · 2019: 166 · 2018: 181 · 2017: 246 · 2016: 259 · 2015: 250 · 2014: 196 · 2013: 178 · 2012: 81
FWCI: 27.66
Type: journal article
Language: en
Open access: bronze
doi.org
Licence: www.elsevier.com/tdm/userlicense/1.0/ (tdm)
www.elsevier.com/legal/tdmrep-license (tdm)
www.elsevier.com/open-access/userlicense/1.0/ (vor, 565 d)
Locations: The American Journal of Human Genetics (publishedVersion)
Europe PMC (PubMed Central) (publishedVersion)
PubMed Central (publishedVersion)
PubMed (publishedVersion)
QUT ePrints (Queensland University of Technology) (submittedVersion)
Funders: Wellcome Trust (090532)
Australian Research Council
National Health and Medical Research Council
National Medical Research Council
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Mapping and Diversity in Plants and Animals
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and phenotypic traits in livestock
Keywords: genome-wide association study, single nucleotide polymorphisms, complex traits, autoimmune disease, metabolic disorders, heart disease, diabetes mellitus, mental illness, genetic association
MeSH terms: Autoimmune Diseases, Female, Humans, Genetic Linkage, Male, Metabolic Diseases, Genetic Predisposition to Disease, History, 21st Century, Genome-Wide Association Study, Genetic Loci, Translational Research, Biomedical

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