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A HapMap harvest of insights into the genetics of common disease
Open accessAbstract
The International HapMap Project was designed to create a genome-wide database of patterns of human genetic variation, with the expectation that these patterns would be useful for genetic association studies of common diseases. This expectation has been amply fulfilled with just the initial output of genome-wide association studies, identifying nearly 100 loci for nearly 40 common diseases and traits. These associations provided new insights into pathophysiology, suggesting previously unsuspected etiologic pathways for common diseases that will be of use in identifying new therapeutic targets and developing targeted interventions based on genetically defined risk. In addition, HapMap-based discoveries have shed new light on the impact of evolutionary pressures on the human genome, suggesting multiple loci important for adapting to disease-causing pathogens and new environments. In this review we examine the origin, development, and current status of the HapMap; its prospects for continued evolution; and its current and potential future impact on biomedical science.
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“A relevant example is evident in genomics research, in which data pooling has, e.g., enabled knowledge of disease-related loci to be expanded substantially [e.g.Lambert et al. (2013); Manolio et al. (2008); Schizophrenia Working Group of the Psychiatric Genomics (2014)], findings which would not have been possible without the sample sizes offered through data-sharing.”
From New directions in hypnosis research: strategies for advancing the cognitive and clinical neuroscience of hypnosis (2017) · cites this paper as Manolio et al. 2008
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“Research in other fields has benefited substantially from datasharing initiatives.”
From New directions in hypnosis research: strategies for advancing the cognitive and clinical neuroscience of hypnosis (2017) · cites this paper as Manolio et al. 2008
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“GWAS has successfully identified thousands of common variants99”
From Rare and common variants: twenty arguments (2012) · cites this paper as [99]
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“As of June 2011, the NHGRI GWAS catalog lists 1,449 genome-wide significant associations with 237 traits and diseases, spread across all chromosome except the Y99.”
From Rare and common variants: twenty arguments (2012) · cites this paper as [99]
In the citing paper
“Despite the success of genome wide association (GWA) studies in identifying common single nucleotide variants (SNVs) that contribute to complex diseases1, the vast majority of genetic variants contributing to disease susceptibility are yet to be discovered.”
From Statistical analysis strategies for association studies involving rare variants (2010) · cites this paper as [1]
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A Genomewide Association Study of Skin Pigmentation in a South Asian Population
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The GLUT9 Gene Is Associated with Serum Uric Acid Levels in Sardinia and Chianti Cohorts
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Genetic variation in DPP6 is associated with susceptibility to amyotrophic lateral sclerosis
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An utter refutation of the ‘Fundamental Theorem of the HapMap’
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Flagged first, then by citations
1 of the 136 references couldn’t be matched to a known paper.
Research works printed but not linked: 3
- NCBI Reference Assembly. Single nucleotide polymorphism. http://www.ncbi.nlm.nih.gov/projects/SNP/ .
- 10.1126/science.1105436 · DOI
- Colca, 2007, Curr. Opin. Investig. Drugs., 8, 707
Cited by
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Common polygenic variation contributes to risk of schizophrenia and bipolar disorder
The International Schizophrenia Consortium (2009) · Nature · doi:10.1038/nature08185 · Cited by 4,821
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“The Catalog has grown 40-fold since the first version which contained 139 studies (21) to 5687 studies and 71673 variant-trait associations from 3567 publications.”
Hindorff, L. A., Sethupathy, P., Junkins, H. A., Ramos, E. M., Mehta, J. P., Collins, F. S., & Manolio, T. A. (2009) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0903103106 · Cited by 4,013
“These studies have pro gressed from assaying fewer than 100,000 SNPs to more than one million, and sample sizes have increased dramatically as the search for variants that explain more of the disease/trait heri tability has intensified (1).”
BackgroundInfluentialSelf-citationMacrophages, inflammation, and insulin resistance
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The mystery of missing heritability: Genetic interactions create phantom heritability
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“We fit an additive model and an LP(2) model to the data (SI Appendix, section 6).”
Method
Metadata
- Authors
- Manolio, T. A., Brooks, L. D., & Collins, F. S.
- Affiliations
- National Human Genome Research Institute (US)
- Venue
- Journal of Clinical Investigation
- Published
- 2008-05-01
- Volume
- 118
- Issue
- 5
- Pages
- 1590-1605
- ISSN
- 0021-9738 (ISSN-L)
- PMC
- PMC2336881
- OpenAlex
- W2101983393
- Cited by
- 889
- References
- 136
- Citations by year
- 2026: 6 · 2025: 13 · 2024: 10 · 2023: 10 · 2022: 14 · 2021: 16 · 2020: 14 · 2019: 22 · 2018: 23 · 2017: 30 · 2016: 30 · 2015: 34 · 2014: 55 · 2013: 53 · 2012: 88
- FWCI
- 14.78
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Licence
- public-domain
- Locations
- Journal of Clinical Investigation (publishedVersion, public-domain)
- PubMed Central (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 › Forensic and Genetic Research
- Keywords
- HapMap, human genetic variation, genome-wide association study, disease pathophysiology, therapeutic target, genetic risk
- MeSH terms
- Chromosome Mapping, Genetics, Population, Haplotypes, Humans, Genetic Variation, Linkage Disequilibrium, Genome, Human, Evolution, Molecular, Genetic Predisposition to Disease, Databases, Genetic
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