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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
In the citing paper
“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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“Development of the HapMap project that compares the genetic sequences of different individuals to identify chromosomal regions where genetic variants are shared, and access to relatively cheap chip-based methods to analyze single nucleotide polymorphisms across the human genome, has led to the publication of many GWAS…”
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“This is consistent with other GWAS results for common, genetically complex diseases 38, 39 : the genotypic relative risks (GRR) of significant findings have typically been in the range of 1.1–1.2, often requiring samples 10,000–20,000 cases obtained by combining multiple samples (in each of which…”
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“The GenBank and Hapmap archives have been essential for major scientific discovery (Manolio et al., 2008), and have led to new research disciplines aimed at integrating and modeling data repositories.”
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“2008) and other phenotypes (Manolio et al. 2008); further, numerous rare, high-penetrance alleles have been shown to cause endo- or subphenotypes that comprise the spectrum of atherosclerosis (e.”
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Curses—Winner's and Otherwise—in Genetic Epidemiology
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Genome‐wide association studies of cerebral white matter lesion burden
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“Over the last 2 years, GWASs have made major contributions to advancing our understanding of many common diseases including diabetes, heart disease, inflammatory bowel disease, various cancers, and rheumatoid arthritis.(21) For example, in Crohn disease, 30 different genes have already been robustly shown to influence…”
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“It is postulated to be caused by the coactions of several loci, each with a small effect (odds ratio (OR) 1.5) (Manolio et al., 2008).”
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“Based on the hypothesis that a proportion of the genetic susceptibility for common diseases may be caused by common genetic variants that arose early in human history and thus are shared across members of a population derived from a common set of ancestors (the common-disease, common variant or CDCV hypothesis), this…”
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“The past decade has witnessed a revolution in genomics technology, enabling the correlation of common genetic variation with a variety of human traits and diseases through genomewide association studies (GWAS) [1–4].”
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Genome-wide association studies in mice
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A Central Role for Long Non-Coding RNA in Cancer
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“ASSOCIATIONS OF lncRNAs WITH CANCER Genome-wide association studies of cancer susceptibility have identified single nucleotide polymorphisms (SNPs) in some of the transcribed regions of the non-coding portions of the human genome (Manolio et al., 2008).”
Background
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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