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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Data pooling in genomics research has enabled knowledge of disease-related loci to be expanded substantially.
“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
The Abstract reports that genome-wide association studies identified nearly 100 loci for nearly 40 diseases and traits. The section on limitations says collaboration across studies has demonstrated benefits and that very large samples are needed. But the paper does not specifically establish that pooling data produced those locus discoveries or that they would have been impossible without data-sharing. (LLM, conf=0.82)
Experimental — accuracy not yet measuredResearch in other fields has benefited substantially from data-sharing initiatives.
“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
GWAS has successfully identified thousands of common variants.
“GWAS has successfully identified thousands of common variants99”
From Rare and common variants: twenty arguments (2012) · cites this paper as [99]
By June 2011, the NHGRI GWAS catalog contained 1,449 genome-wide significant associations across 237 traits and diseases, on every chromosome except Y.
“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]
Genome-wide association studies focused on common single nucleotide variants have identified some disease-associated variants, but most genetic variants contributing to complex disease susceptibility remain undiscovered.
“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 QTL influencing F cell production maps to a gene encoding a zinc-finger protein on chromosome 2p15
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A common variant of HMGA2 is associated with adult and childhood height in the general population
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Common deletions and SNPs are in linkage disequilibrium in the human genome
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Genome-wide scan identifies variation in MLXIPL associated with plasma triglycerides
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Integrating ethics and science in the International HapMap Project
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Self-citationA Genomewide Association Study of Skin Pigmentation in a South Asian Population
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Nature, nurture and human disease
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A common variant of the p16INK4a genetic region is associated with physical function in older people
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Will haplotype maps be useful for finding genes?
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Recent development in pharmacogenomics: from candidate genes to genome-wide association studies
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Research works printed but not linked: 1
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Common polygenic variation contributes to risk of schizophrenia and bipolar disorder
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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.”
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“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).”
MethodGenomewide Association Studies and Assessment of the Risk of Disease
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“Stern et al. ( 2 ) found smoking status to be an effect modifier of the association between the XPD codon 751 polymorphism and risk of bladder cancer.”
BackgroundInfluentialGenome-wide association study of blood pressure and hypertension
Levy, D., Ehret, G. B., Rice, K., Verwoert, G. C., Launer, L. J., Dehghan, A., Glazer, N. L., Morrison, A. C., Johnson, A. D., Aspelund, T., et al. (2009) · Nature Genetics · doi:10.1038/ng.384 · Cited by 1,364 · see citing works
Common variants at 30 loci contribute to polygenic dyslipidemia
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InfluentialSelf-citationRare and common variants: twenty arguments
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“GWASs have successfully identified thousands of common variant”
BackgroundHuman Genome Sequencing Using Unchained Base Reads on Self-Assembling DNA Nanoarrays
Drmanac, R., Sparks, A. B., Callow, M. J., Halpern, A. L., Burns, N. L., Kermani, B. G., Carnevali, P., Nazarenko, I., Nilsen, G. B., Yeung, G., et al. (2010) · Science · doi:10.1126/science.1181498 · Cited by 1,212 · see citing works
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“A basic extreme-trait design would be to sequence a small, carefully selected population at one or both ends of the extremes of a phenotype (this idea has been discussed previousl”
BackgroundCommon variants on chromosome 6p22.1 are associated with schizophrenia
Shi, J., Levinson, D. F., Duan, J., Sanders, A. R., Zheng, Y., Pe’er, I., Dudbridge, F., Holmans, P., Whittemore, A. S., Mowry, B. J., et al. (2009) · Nature · doi:10.1038/nature08192 · Cited by 1,154 · see citing works
Understanding the contribution of synonymous mutations to human disease
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“These genome-wide association studies (GWASs), by taking a hypothesis-free approach, have made it possible to identify loci in genes that were not necessarily previously associated with the diseas”
BackgroundSankaran, V. G., Menne, T. F., Xu, J., Akie, T. E., Lettre, G., Van Handel, B., Mikkola, H. K. A., Hirschhorn, J. N., Cantor, A. B., & Orkin, S. H. (2008) · Science · doi:10.1126/science.1165409 · Cited by 919 · see citing works
The PhenX Toolkit: get the most from your measures
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“Because of the rapid progress in genomic technology, investigators can now analyze hundreds of thousands of genetic polymorphisms (2, 3) against an array of disease phenotypes to identify associations.”
BackgroundCommon Genetic Variation and Human Traits
Goldstein, D. B. (2009) · New England Journal of Medicine · doi:10.1056/nejmp0806284 · Cited by 918 · see citing works
CNVs: Harbingers of a Rare Variant Revolution in Psychiatric Genetics
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Analysing biological pathways in genome-wide association studies
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“jpg"/> Genome-wide association (GWA) studies have been very successful for identifying disease loci using single-marker-based association tests that examine the relationships between each SNP marker and the trait of interes”
Genomewide Association Studies and Human Disease
Hardy, J., & Singleton, A. (2009) · New England Journal of Medicine · doi:10.1056/nejmra0808700 · Cited by 733 · see citing works
The Genetic Signatures of Noncoding RNAs
Mattick, J. S. (2009) · PLoS Genetics · doi:10.1371/journal.pgen.1000459 · Cited by 704 · see citing works
“regions [104,105].”
The genetics of asthma and allergic disease: a 21st century perspective
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the eMERGE Team, McCarty, C. A., Chisholm, R. L., Chute, C. G., Kullo, I. J., Jarvik, G. P., Larson, E. B., Li, R., Masys, D. R., Ritchie, M. D., et al. (2011) · BMC Medical Genomics · doi:10.1186/1755-8794-4-13 · Cited by 692 · see citing works
“This effort has been remarkably successful [2].”
Common vs. rare allele hypotheses for complex diseases
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Long Intergenic Noncoding RNAs: New Links in Cancer Progression
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“coding portions of the genome, some of which may be transcribed (24).”
BackgroundGenomic and personalized medicine: foundations and applications
Ginsburg, G. S., & Willard, H. F. (2009) · Translational Research · doi:10.1016/j.trsl.2009.09.005 · Cited by 637 · see citing works
Spencer, C. C. A., Su, Z., Donnelly, P., & Marchini, J. (2009) · PLoS Genetics · doi:10.1371/journal.pgen.1000477 · Cited by 606 · see citing works
“This is deliberately set so that false positive rates will be low – for example, most SNPs with trend test p-values passing this threshold in GWAS studies, including all of those in the WTCCC experiment, have had associations confirmed in replication studies (see [18] and the NHGRI Catalog of Published Genome-Wide Ass…”
ResultAn Environment-Wide Association Study (EWAS) on Type 2 Diabetes Mellitus
Patel, C. J., Bhattacharya, J., & Butte, A. J. (2010) · PLoS ONE · doi:10.1371/journal.pone.0010746 · Cited by 581 · see citing works
“present [4].”
Identifying Causal Variants at Loci with Multiple Signals of Association
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“…al. 2013; Ripke et al. 2013), only a handful of causal genetic variants (i.e., variants that biologically alter disease risk) have been found (Altshuler et al. 2008; Manolio et al. 2008; McCarthy et al. 2008), thus prohibiting the mechanistic understanding of the genetic basis of common diseases.”
BackgroundImplementing genomic medicine in the clinic: the future is here
Manolio, T., Chisholm, R., Ozenberger, B., Roden, D., Williams, M. S., Wilson, R. K., Bick, D., Bottinger, E., Brilliant, M., Eng, C., et al. (2013) · Genetics in Medicine · doi:10.1038/gim.2012.157 · Cited by 539 · see citing works
Self-citationSample Size and Statistical Power Calculation in Genetic Association Studies
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Bioinformatics challenges for genome-wide association studies
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Genome-wide association studies in diverse populations
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“as having markedly increased the number of genotype–phenotype associations documented for a wide range of phenotype”
BackgroundDrug development in the era of precision medicine
Dugger, S. A., Platt, A., & Goldstein, D. B. (2018) · Nature Reviews Drug Discovery · doi:10.1038/nrd.2017.226 · Cited by 493 · see citing works
Quality control and quality assurance in genotypic data for genome‐wide association studies
Laurie, C. C., Doheny, K. F., Mirel, D. B., Pugh, E., Bierut, L. J., Bhangale, T., Boehm, F. J., Caporaso, N. E., Cornelis, M. C., Edenberg, H. J., et al. (2010) · Genetic Epidemiology · doi:10.1002/gepi.20516 · Cited by 472 · see citing works
“In the past few years, despite the phenomenal increase in the number of published GWAS and in the number of replicated associations for complex human diseases [Hirschhorn, 2009; Manolio et al., 2008], much of the genetic variation in disease traits remains unexplained by SNP associations detected so far.”
BackgroundSelf-citationDetecting shared pathogenesis from the shared genetics of immune-related diseases
Zhernakova, A., van Diemen, C. C., & Wijmenga, C. (2009) · Nature Reviews Genetics · doi:10.1038/nrg2489 · Cited by 551 · see citing works
Enhancer-promoter interactions are encoded by complex genomic signatures on looping chromatin
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“Yet few noncoding mutations have been functionally characterized or mechanistically linked to human phenotypes 7,9 .”
BackgroundGenomewide Association Studies: History, Rationale, and Prospects for Psychiatric Disorders
Psychiatric GWAS Consortium Coordinating Committee (2009) · American Journal of Psychiatry · doi:10.1176/appi.ajp.2008.08091354 · Cited by 450 · see citing works
Statistical analysis strategies for association studies involving rare variants
Bansal, V., Libiger, O., Torkamani, A., & Schork, N. J. (2010) · Nature Reviews Genetics · doi:10.1038/nrg2867 · Cited by 455 · see citing works
“jpg"/> Despite the success of genome-wide association (GWA) studies in identifying common single nucleotide variants (SNVs) that contribute to complex disease”
BackgroundGenomic Medicine — An Updated Primer
Feero, W. G., Guttmacher, A. E., & Collins, F. S. (2010) · New England Journal of Medicine · doi:10.1056/nejmra0907175 · Cited by 440 · see citing works
Self-citationGenome-wide association studies in ADHD
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“This selection is sufficient to obtain information about most of the frequent genetic variation in the genome (Manolio et al. 2008; Pearson and Manolio 2008), especially for the newer platforms, which include around 1,000,000 or more SNPs.”
BackgroundPerformance of Common Genetic Variants in Breast-Cancer Risk Models
Wacholder, S., Hartge, P. A., Prentice, R. L., García‐Closas, M., Feigelson, H. S., Diver, W. R., Thun, M. J., Cox, D. G., Hankinson, S. E., Kraft, P., et al. (2010) · New England Journal of Medicine · doi:10.1056/nejmoa0907727 · Cited by 412 · see citing works
Genetic Risk Prediction — Are We There Yet?
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Identification of IL6R and chromosome 11q13.5 as risk loci for asthma
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“Because of the proven success of genome-wide association studies (GWAS) to identify common risk variants (6), further dissection of this uncharacterised component of disease risk through well powered genetic studies represents a unique opportunity to advance our knowledge of the mechanisms that trigger asthma.”
BackgroundCommon variants at ten loci modulate the QT interval duration in the QTSCD Study
Pfeufer, A., Sanna, S., Arking, D. E., Müller‐Nurasyid, M., Gateva, V., Fuchsberger, C., Ehret, G., Orrù, M., Pattaro, C., Köttgen, A., et al. (2009) · Nature Genetics · doi:10.1038/ng.362 · Cited by 388 · see citing works
Gene Ontology Analysis of GWA Study Data Sets Provides Insights into the Biology of Bipolar Disorder
Holmans, P., Green, E. K., Pahwa, J. S., Ferreira, M. A. R., Purcell, S. M., Sklar, P., Owen, M. J., O'Donovan, M. C., & Craddock, N. (2009) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2009.05.011 · Cited by 378 · see citing works
GATES: A Rapid and Powerful Gene-Based Association Test Using Extended Simes Procedure
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“These studies typically use the single nucleotide polymorphism (SNP) as the basic unit of analysis, which is a convenient strategy and has led to the discovery of many important genetic loci for human diseases.(2) However, the statistically significant variants detected so far explain only a modest proportion of the t…”
BackgroundChromosome 9p21 SNPs Associated with Multiple Disease Phenotypes Correlate with ANRIL Expression
Cunnington, M. S., Santibanez‐Koref, M., Mayosi, B. M., Burn, J., & Keavney, B. D. (2010) · PLoS Genetics · doi:10.1371/journal.pgen.1000899 · Cited by 379 · see citing works
“The fact that allelic expression is a more efficient way to identify cis-acting influences on expression has implications for future studies investigating the effects of SNPs on expression at other loci, for example for the hundreds of non-coding SNPs correlated with different diseases by recent GWA studies [54].”
BackgroundValidating, augmenting and refining genome-wide association signals
Ioannidis, J. P. A., Thomas, G. D., & Daly, M. J. (2009) · Nature Reviews Genetics · doi:10.1038/nrg2544 · Cited by 370 · see citing works
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A Genome Wide Survey of SNP Variation Reveals the Genetic Structure of Sheep Breeds
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“In humans, genome wide association studies have utilised these markers to identify sequence variants or genomic regions associated with nearly 40 complex human diseases [19].”
BackgroundSmith, E. N., Bloss, C. S., Badner, J. A., Barrett, T., Belmonte, P. L., Berrettini, W., Byerley, W., Coryell, W., Craig, D., Edenberg, H. J., et al. (2009) · Molecular Psychiatry · doi:10.1038/mp.2009.43 · Cited by 363 · see citing works
Progress and challenges in genome-wide association studies in humans
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“Nonetheless, there have been some exciting insights into disease processes, as well as tantalizing glimpses of unsuspected overlaps between disease loc”
BackgroundMicroRNA target site polymorphisms and human disease
Sethupathy, P., & Collins, F. S. (2008) · Trends in Genetics · doi:10.1016/j.tig.2008.07.004 · Cited by 333 · see citing works
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Genome-wide Association Analysis Identifies PDE4D as an Asthma-Susceptibility Gene
Himes, B. E., Hunninghake, G. M., Baurley, J. W., Rafaels, N. M., Abou‐Sleiman, P. M., Strachan, D. P., Wilk, J. B., Willis‐Owen, S. A. G., Klanderman, B. J., Lasky-Su, J. A., et al. (2009) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2009.04.006 · Cited by 328 · see citing works
“The results of these studies have added to the growing credibility of the GWA approach for uncovering novel disease variants in complex diseases.(12) In this work, we describe the results of a GWA study in which we found association between asthma and singlenucleotide polymorphisms (SNPs) in the phosphodiesterase 4D,…”
An Open Access Database of Genome-wide Association Results
Johnson, A. D., & O’Donnell, C. J. (2009) · BMC Medical Genetics · doi:10.1186/1471-2350-10-6 · Cited by 323 · see citing works
Genome-wide analysis identifies 12 loci influencing human reproductive behavior
Barban, N., Study, L. C., Jansen, R., de Vlaming, R., Vaez, A., Mandemakers, J. J., Tropf, F. C., Shen, X., Wilson, J. F., Chasman, D. I., et al. (2016) · Nature Genetics · doi:10.1038/ng.3698 · Cited by 315 · see citing works
“Although the effect sizes of the identified common variants are small, there are examples of GWAS-identified loci of small effect that end up leading to important biological insights 56,57 .”
Genome-based prediction of common diseases: advances and prospects
Janssens, A. C. J. W., & van Duijn, C. M. (2008) · Human Molecular Genetics · doi:10.1093/hmg/ddn250 · Cited by 315 · see citing works
“Genome-wide association studies are rapidly unraveling the role of genetic factors in the pathogeneses of common diseases (1).”
BackgroundGene-Environment Interaction in Psychological Traits and Disorders
Dick, D. M. (2011) · Annual Review of Clinical Psychology · doi:10.1146/annurev-clinpsy-032210-104518 · Cited by 291 · see citing works
“Another study also found that among individuals at high risk for schizophrenia, experiencing obstetric complications was related to an earlier hospitalization (Malaspina et al. 1999).”
BackgroundReplication in Genome-Wide Association Studies
Kraft, P., Zeggini, E., & Ioannidis, J. P. A. (2009) · Statistical Science · doi:10.1214/09-sts290 · Cited by 292 · see citing works
“ortion of the tiny and infinitesimal effects are already discovered. With these caveats, most evidence from GWA studies to date is more compatible with the scenarios of OR av being in the range of 1.15 [45], but the 1.02 scenario is not implausible, and 4 P. KRAFT, E. ZEGGINI AND J. P. A. IOANNIDIS for some traits the 1…”
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“Particularly, genome-wide association studies (GWAS) have become increasingly popular [Manolio et al., 2008].”
BackgroundMeta-Analysis in Genome-Wide Association Studies
Zeggini, E., & Ioannidis, J. P. A. (2009) · Pharmacogenomics · doi:10.2217/14622416.10.2.191 · Cited by 280 · see citing works
Meta-analysis of 32 genome-wide linkage studies of schizophrenia
Ng, M., Levinson, D. F., Faraone, S. V., Suarez, B. K., DeLisi, L. E., Arinami, T., Riley, B. P., Paunio, T., Pulver, A. E., Irmansyah, et al. (2008) · Molecular Psychiatry · doi:10.1038/mp.2008.135 · Cited by 279 · see citing works
The molecular pathology of cancer
Harris, T., & McCormick, F. P. (2010) · Nature Reviews Clinical Oncology · doi:10.1038/nrclinonc.2010.41 · Cited by 278 · see citing works
“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…”
BackgroundThe central role of RNA in human development and cognition
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“Indeed, most genetic variants associated with complex diseases are non-coding [223], presumably regulatory, many if”
BackgroundShyn, S. I., Shi, J., Kraft, J. B., Potash, J. B., Knowles, J. A., Weissman, M. M., Garriock, H. A., Yokoyama, J. S., McGrath, P. J., Peters, E. J., et al. (2009) · Molecular Psychiatry · doi:10.1038/mp.2009.125 · Cited by 270 · see citing works
Genome-wide association study of recurrent early-onset major depressive disorder
Shi, J., Potash, J. B., Knowles, J. A., Weissman, M. M., Coryell, W. H., Scheftner, W. A., Lawson, W. B., DePaulo, J. R., Gejman, P. V., Sanders, A. R., et al. (2010) · Molecular Psychiatry · doi:10.1038/mp.2009.124 · Cited by 267 · see citing works
“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…”
InfluentialData sharing in neuroimaging research
Poline, J., Breeze, J. L., Ghosh, S., Gorgolewski, K. J., Halchenko, Y. O., Hanke, M., Haselgrove, C., Helmer, K. G., Keator, D. B., Marcus, D. S., et al. (2012) · Frontiers in Neuroinformatics · doi:10.3389/fninf.2012.00009 · Cited by 262 · see citing works
“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.”
BackgroundMishra, P. J., & Bertino, J. R. (2009) · Pharmacogenomics · doi:10.2217/14622416.10.3.399 · Cited by 262 · see citing works
The ClinSeq Project: Piloting large-scale genome sequencing for research in genomic medicinePreprint
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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.”
BackgroundSelf-citationGenetic architecture of complex traits: Large phenotypic effects and pervasive epistasis
Shao, H., Burrage, L. C., Sinasac, D. S., Hill, A. E., Ernest, S. R., O’Brien, W. E., Courtland, H., Jepsen, K. J., Kirby, A. W., Kulbokas, E. J., et al. (2008) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0810388105 · Cited by 256 · see citing works
Control of fetal hemoglobin: new insights emerging from genomics and clinical implications
Thein, S. L., Menzel, S., Lathrop, M., & Garner, C. (2009) · Human Molecular Genetics · doi:10.1093/hmg/ddp401 · Cited by 250 · see citing works
Genetic Factors That Affect Risk of Alcoholic and Nonalcoholic Fatty Liver Disease
Anstee, Q. M., Seth, D., & Day, C. P. (2016) · Gastroenterology · doi:10.1053/j.gastro.2016.01.037 · Cited by 252 · see citing works
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Decoding DNA, RNA and peptides with quantum tunnelling
Ventra, M. D., & Taniguchi, M. (2016) · Nature Nanotechnology · doi:10.1038/nnano.2015.320 · Cited by 240 · see citing works
Curses—Winner's and Otherwise—in Genetic Epidemiology
Kraft, P. (2008) · Epidemiology · doi:10.1097/ede.0b013e318181b865 · Cited by 225 · see citing works
Genetic Variants Associated With Cardiac Structure and Function
Vasan, R. S., Glazer, N. L., Felix, J. F., Lieb, W., Wild, P. S., Felix, S. B., Watzinger, N., Larson, M. G., Smith, N. L., Dehghan, A., et al. (2009) · JAMA · doi:10.1001/jama.2009.978-a · Cited by 222 · see citing works
“LV mass, g 172 (48) 133 (35) 162 (47) 133 (36) 186 (40) 145 (37) 185 (33) 137 (24) 212 (57) 152 (43) 218 (59) 163 (53) 224 (61) 175 (57)”
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Imaging phenotypes of major depressive disorder: genetic correlates
Savitz, J. B., & Drevets, W. C. (2009) · Neuroscience · doi:10.1016/j.neuroscience.2009.03.082 · Cited by 216 · see citing works
Genome‐wide association studies of cerebral white matter lesion burden
Fornage, M., Debette, S., Bis, J. C., Schmidt, H., Ikram, M. A., Dufouil, C., Sigurdsson, S. O., Lumley, T., DeStefano, A. L., Fazekas, F., et al. (2011) · Annals of Neurology · doi:10.1002/ana.22403 · Cited by 220 · see citing works
“Genome-wide association studies (GWASs) provide a powerful tool for identifying genes related to complex traits.(10) We have conducted a meta-analysis of GWAS data for WMH burden in 9,361 individuals of European descent (mean age, 69.”
MethodCraddock, N., O'Donovan, M. C., & Owen, M. J. (2009) · Schizophrenia Bulletin · doi:10.1093/schbul/sbp020 · Cited by 216 · see citing works
“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…”
BackgroundAthanasiu, L., Mattingsdal, M., Kähler, A. K., Brown, A. A., Gústafsson, Ó., Agartz, I., Giegling, I., Muglia, P., Cichon, S., Rietschel, M., et al. (2010) · Journal of Psychiatric Research · doi:10.1016/j.jpsychires.2010.02.002 · Cited by 210 · see citing works
“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).”
BackgroundInfluentialThe genetics of Tourette syndrome: A review
O'Rourke, J. A., Scharf, J. M., Yu, D., & Pauls, D. L. (2009) · Journal of Psychosomatic Research · doi:10.1016/j.jpsychores.2009.06.006 · Cited by 212 · see citing works
“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…”
BackgroundHoffmann, T. J., Kvale, M. N., Hesselson, S., Zhan, Y., Aquino, C., Cao, Y., Cawley, S. E., Chung, E. H., Connell, S., Eshragh, J. L., et al. (2011) · Genomics · doi:10.1016/j.ygeno.2011.04.005 · Cited by 210 · see citing works
“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].”
BackgroundChen, D. T., Jiang, X., Akula, N., Shugart, Y. Y., Wendland, J. R., Steele, C. J. M., Kassem, L., Park, J.-H., Chatterjee, N., Jamain, S., et al. (2011) · Molecular Psychiatry · doi:10.1038/mp.2011.157 · Cited by 208 · see citing works
A framework for interpreting genome-wide association studies of psychiatric disorders
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The HapMap and Genome-Wide Association Studies in Diagnosis and Therapy
Manolio, T. A., & Collins, F. S. (2009) · Annual Review of Medicine · doi:10.1146/annurev.med.60.061907.093117 · Cited by 208 · see citing works
“To allow better choice of tag SNPs and more detailed analyses for diverse populations, additional samples were collected from the same four initial HapMap populations and from seven additional populations: Luhya in Webuye, Kenya; Maasai in Kinyawa, Kenya; Tuscans in Italy; Gujarati Indians in Houston, Texas; Chinese i…”
BackgroundInfluentialSelf-citationGuidelines for the Tetra-Primer ARMS–PCR Technique Development
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“Over the last years, genome-wide association studies have made possible to measure the associations between mapped SNPs and their presence in common complex conditions of large patient’s groups, revolutionizing the study of many diseases [6].”
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“These results highlight the need to perform extremely large studies with very careful definitions and measurements in order to understand the effects of common genetic variants on OA outcomes (42), and are consistent with experience regarding the magnitude of genetic effects that is currently obtained with highthrough…”
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Self-citationMethodological challenges of genome-wide association analysis in Africa
Teo, Y., Small, K. S., & Kwiatkowski, D. P. (2010) · Nature Reviews Genetics · doi:10.1038/nrg2731 · Cited by 195 · see citing works
“jpg"/> Over the past 4 years, genome-wide association studies (GWA studies) have become a powerful tool for investigating the genetic basis of common diseases, and important new findings now emerge almost every wee”
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Genome-wide association studies in mice
Flint, J., & Eskin, E. (2012) · Nature Reviews Genetics · doi:10.1038/nrg3335 · Cited by 188 · see citing works
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Wolfson, M. C., Wallace, S. E., Masca, N. G. D., Rowe, G., Sheehan, N. A., Ferretti, V., Laflamme, P., Tobin, M. D., Macleod, J., Little, J., et al. (2010) · International Journal of Epidemiology · doi:10.1093/ije/dyq111 · Cited by 177 · see citing works
Fortier, I., Burton, P. R., Robson, P. J., Ferretti, V., Little, J., L’Heureux, F., Deschênes, M., Knoppers, B. M., Doiron, D., Keers, J. C., et al. (2010) · International Journal of Epidemiology · doi:10.1093/ije/dyq139 · Cited by 176 · see citing works
A Central Role for Long Non-Coding RNA in Cancer
Mitra, S. A., Mitra, A. P., & Triche, T. J. (2012) · Frontiers in Genetics · doi:10.3389/fgene.2012.00017 · Cited by 173 · see citing works
“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
- 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
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
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