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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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In the citing paper
“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]
In the citing paper
“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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Cites
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MethodCrossett, A., Kent, B. P., Klei, L., Ringquist, S., Trucco, M., Roeder, K., & Devlin, B. (2010) · Statistics in Medicine · doi:10.1002/sim.4057 · Cited by 15
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“The functional significance of this single nucleotide polymorphism (SNP) remains an issue of controversy since homozygosity for the Asp298 variant has been related to reduced enzyme activity (Manolio et al., 2008).”
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“With such substantial SNP variation, unbiased genome-wide searches for variations associated with a disease phenotype could potentially entail a comparison of the frequency of all the SNPs present at over 10 million individual sites in the genome between diseased and non-diseased cohorts [14].”
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“In this aspect, genome-wide association studies have better power in detecting alleles associated with complex diseases [Manolio et al., 2008].”
BackgroundScreening of Kozak-motif-located SNPs and analysis of their association with human diseases
Xu, H. Y., Wang, P., You, J., Zheng, Y., Fu, Y., Tang, Q., Zhou, L., Wei, Z., Lin, B., Shu, Y., et al. (2010) · Biochemical and Biophysical Research Communications · doi:10.1016/j.bbrc.2010.01.002 · Cited by 17
“Based on the theory of haplotypes and linkage disequilibrium (LD), if one SNP is associated with a phenotype, the other SNPs that are located in the same block might be as well [14].”
BackgroundGovernance of cross-border genomic data sharing through a human rights approach
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Diagnostic Exome Sequencing: A New Paradigm in Neurology
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“Compared with single SNPs, association studies based on haplotypes of multiple markers can significantly enhance the mapping and characterization of disease susceptibility genes (33).”
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“only a fraction of the genetic factors involved have been identified, for most disorders less than 20 [1], explaining not more than a few percentages of the heritability.”
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“The number of genome-wide association studies (GWAS) has grown rapidly in the past few years [1].”
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Bloomgarden, Z. T. (2011) · Diabetes Care · doi:10.2337/dc11-1306 · Cited by 15
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Policy perspectives on the emerging pathways of personalized medicine
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“The HapMap project, by building a widely diverse international public genome database, rapidly accelerated the capability to compare population-based genetic makeup, resulting in highly annotated databases of disease genes.(8) Evolutionary aspects of genomic information for understanding biological diversity came in t…”
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Rare-Variant Kernel Machine Test for Longitudinal Data from Population and Family Samples
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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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