Genomewide Association Studies and Assessment of the Risk of Disease
Open accessAbstract
enomewide association studies -in which hundreds of thousands of single-nucleotide polymorphisms (SNPs) are tested for association with a disease in hundreds or thousands of persons (Fig. 1) -have revolutionized the search for genetic influences on complex traits.1,2 Such conditions, in contrast with single-gene disorders, are caused by many genetic and environmental factors working together, each having a relatively small effect and few if any being absolutely required for disease to occur.Although complex conditions have been referred to as the geneticist's nightmare, 3 in the past 5 years genomewide association studies have identified SNPs implicating hundreds of robustly replicated loci (i.e., specific genomic locations) for common traits.4 These studies raise many questions, such as why the identified variants have low associated risks and account for so little heritability.5 Explanations for this apparent gap are being sought.Perhaps the answer will reside in rare variants (see the Glossary for this and other key terms), which are not captured by current genomewide association studies; structural variants, which are poorly captured by current studies; other forms of genomic variation; or interactions between genes or between genes and environmental factors.6 Despite their value in locating the vicinity of genomic variants that may be causing disease, few of the SNPs identified in genomewide association studies have clear functional implications that are relevant to mechanisms of disease.7 Narrowing an implicated locus to a single variant that directly causes susceptibility to disease by disrupting the expression or function of a protein has proved elusive to date.This will be a key step in improving our understanding of the mechanisms of disease and in designing effective strategies for risk assessment and treatment.There are also clinical research questions that must be answered before data from genomewide association studies can be routinely incorporated into health care delivery.These questions include how to use the data obtained in these studies to screen for and predict disease and to improve the processes of drug selection and dosing.Another, more immediate question is how to respond in the rare case of a patient who has already purchased a genomewide association scan. Technic a l A spec t s of the Genomew ide A ssoci ation S t udyGenomewide association studies build directly on recent efforts to map the patterns of inheritance for the most common form of genomic variation, the SNP.8,9 An estimated 10 million common SNPs -those with a minor-allele frequency of at least 5% -are transmitted across generations in blocks, allowing a few particular, or tag,The New England Journal of Medicine
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The same genetic variants often contribute to different final outcomes, depending on the environment and genetic background.
“Third, the same genetic variants often contribute to different final outcomes, depending on the environment and genetic background.”
From Multi-omics approaches to disease (2017) · cites this paper as [3]
The loci identified so far generally explain only a fraction of the heritable component for specific diseases.
“First, the loci that have been identified so far generally explain only a fraction of the heritable component for specific diseases.”
From Multi-omics approaches to disease (2017) · cites this paper as [3]
Common diseases usually result from changes in gene regulation, while Mendelian diseases generally result from changes in coding regions of genes.
“Second, while Mendelian diseases generally result from changes in coding regions of genes, common diseases usually result from changes in gene regulation.”
From Multi-omics approaches to disease (2017) · cites this paper as [3]
GWAS is a powerful tool for understanding complete set of genetic variants in different crop cultivars to recognize allelic variant linked with specific trait.
“Genome wide association studies (GWAS) is a powerful tool for understanding the complete set of genetic variants in different crop cultivars to recognize allelic variant linked with any specific trait [144].”
From Impact of Climate Change on Crops Adaptation and Strategies to Tackle Its Outcome: A Review (2019) · cites this paper as [144]
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- Authors
- Manolio, T. A.
- Affiliations
- National Human Genome Research Institute (US)
- Corresponding author
- Manolio, Teri A.
- ORCID
- Manolio, Teri A.
- Venue
- New England Journal of Medicine
- Publisher
- Massachusetts Medical Society
- Published
- 2010-07-08
- Volume
- 363
- Issue
- 2
- Pages
- 166-176
- ISSN
- 0028-4793 (ISSN-L)
- 1533-4406
- OpenAlex
- W2187181884
- Cited by
- 1,512
- References
- 70
- Citations by year
- 2026: 23 · 2025: 27 · 2024: 58 · 2023: 43 · 2022: 52 · 2021: 60 · 2020: 75 · 2019: 62 · 2018: 94 · 2017: 104 · 2016: 85 · 2015: 102 · 2014: 133 · 2013: 147 · 2012: 216
- FWCI
- 19.93
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- New England Journal of Medicine (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Physical Sciences › Environmental Science › Health, Toxicology and Mutagenesis › Health, Environment, Cognitive Aging
- Keywords
- genome-wide association study, single nucleotide polymorphisms, genetic susceptibility, complex diseases, heritability, rare variants, structural variants, gene-environment interaction, disease risk assessment, polygenic risk
- MeSH terms
- Genetic Testing, Humans, Risk Assessment, Genetic Predisposition to Disease, Polymorphism, Single Nucleotide, Genome-Wide Association Study
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