Genome-wide association studies for complex traits: consensus, uncertainty and challenges
Abstract
The past year has witnessed substantial advances in understanding the genetic basis of many common phenotypes of biomedical importance. These advances have been the result of systematic, well-powered, genome-wide surveys exploring the relationships between common sequence variation and disease predisposition. This approach has revealed over 50 disease-susceptibility loci and has provided insights into the allelic architecture of multifactorial traits. At the same time, much has been learned about the successful prosecution of association studies on such a scale. This Review highlights the knowledge gained, defines areas of emerging consensus, and describes the challenges that remain as researchers seek to obtain more complete descriptions of the susceptibility architecture of biomedical traits of interest and to translate the information gathered into improvements in clinical management.
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Most variants identified in GWASs reside outside of coding sequence.
“As yet, the function of most variants identified in GWASs is unknown, and most of these variants reside outside of coding sequence (9).”
From The N342S MYLIP polymorphism is associated with high total cholesterol and increased LDL receptor degradation in humans (2011) · cites this paper as [9]
Each study was subject to GWAS quality control filters customized taking into account study-specific features and standardized to the HapMap reference panel and statistical genotype imputation.
“Each study was first subject to GWAS quality control filters (customized taking into account study specific features21 as detailed in Supplementary Table 2) and standardized to the HapMap reference panel and statistical genotype imputation22–25.”
From Seven new loci associated with age-related macular degeneration (2013) · cites this paper as [21]
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- Authors
- McCarthy, M. I., Abecasis, G. R., Cardon, L. R., Goldstein, D. B., Little, J., Ioannidis, J. P. A., & Hirschhorn, J. N.
- Affiliations
- Centre for Human Genetics (GB)
- University of Michigan (US)
- Duke University (US)
- University of Ottawa (CA)
- Tufts University (US)
- Broad Institute (US)
- Corresponding author
- McCarthy, Mark I.
- ORCID
- Venue
- Nature Reviews Genetics
- Published
- 2008-05
- Volume
- 9
- Issue
- 5
- Pages
- 356-369
- ISSN
- 1471-0056 (ISSN-L)
- 1471-0064
- OpenAlex
- W2041467022
- Cited by
- 2,891
- References
- 128
- Citations by year
- 2026: 38 · 2025: 57 · 2024: 90 · 2023: 68 · 2022: 61 · 2021: 85 · 2020: 94 · 2019: 129 · 2018: 127 · 2017: 160 · 2016: 170 · 2015: 171 · 2014: 200 · 2013: 235 · 2012: 257
- FWCI
- 29.53
- Type
- journal article
- Language
- en
- Open access
- closed
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature Reviews Genetics (publishedVersion)
- PubMed (publishedVersion)
- 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, complex traits, disease susceptibility loci, multifactorial traits, common diseases, genetic basis of disease, clinical translation
- MeSH terms
- Alleles, Animals, Humans, Genetic Variation, Genome, Human, Quantitative Trait, Heritable, Genetic Predisposition to Disease, Genetic Diseases, Inborn, Quantitative Trait Loci
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