The HapMap and genome-wide association studies in diagnosis and therapy.
- Authors
- Manolio, Teri A; Collins, Francis S
- Year
- 2009
- Journal
- Annual review of medicine
- PMID
- 19630580
- DOI
- 10.1146/annurev.med.60.061907.093117
- PMCID
- PMC2717504
The International HapMap Project produced a genome-wide database of human genetic variation for use in genetic association studies of common diseases. The initial output of these studies has been overwhelming, with over 150 risk loci identified in studies of more than 60 common diseases and traits. These associations have suggested 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. Here we examine the development and application of the HapMap to genome-wide association (GWA) studies; present and future technologies for GWA research; current major efforts in GWA studies; successes and limitations of the GWA approach in identifying polymorphisms related to complex diseases; data release and privacy polices; use of these findings by clinicians, the public, and academic physicians; and sources of ongoing authoritative information on this rapidly evolving field.
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External
| Title | Authors | Journal | Year | Link |
|---|---|---|---|---|
| Predictive health index: integrating body composition and heart rate variability metrics with artificial intelligence to predict chronic disease risk and specific chronic non-communicable diseases. | Boschiero D et al. | โ | 2026 | โ |
| Community and bioethicists' perspectives on iPSC research with biobanked samples collected using broad consent. | Ikhane PA et al. | โ | 2025 | โ |
| Phenol exposure, polygenic risk score, and dyslexia in Chinese children: Gene-environment interaction. | Xiang Z et al. | โ | 2025 | โ |
| Interactive data sharing for multiple questionnaire-based exposome-wide association studies and exposome correlations in the Personalized Environment and Genes Study. | Lloyd D et al. | โ | 2024 | โ |
| Genetic Basis of Inflammatory Demyelinating Diseases of the Central Nervous System: Multiple Sclerosis and Neuromyelitis Optica Spectrum. | Ortiz GG et al. | โ | 2023 | โ |
| Investigating the role of the relaxin-3/RXFP3 system in neuropsychiatric disorders and metabolic phenotypes: A candidate gene approach. | Wong WLE et al. | โ | 2023 | โ |
| Computational and experimental methods for classifying variants of unknown clinical significance. | Spielmann M et al. | โ | 2022 | โ |
| Impact of Inherited Genetic Variants on Critically Ill Septic Children. | Miranda M et al. | โ | 2022 | โ |
| The Thousand Polish Genomes-A Database of Polish Variant Allele Frequencies. | Kaja E et al. | โ | 2022 | โ |
| Bench Research Informed by GWAS Results. | Kondratyev NV et al. | โ | 2021 | โ |
| Genome-wide CNV investigation suggests a role for cadherin, Wnt, and p53 pathways in primary open-angle glaucoma. | Lo Faro V et al. | โ | 2021 | โ |
| So many Nigerians: why is Nigeria overrepresented as the ancestral genetic homeland of Legacy African North Americans? | Jackson FLC | โ | 2021 | โ |
| โThe Thousand Polish Genomes Projectโ - a national database of Polish variant allele frequencies | Kaja E et al. | โ | 2021 | โ |
| A Journey through Genetic Architecture and Predisposition of Coronary Artery Disease. | Roberts R et al. | โ | 2020 | โ |
| Genetic Fine Mapping and Genomic Annotation Defines Causal Mechanisms at A Novel Colorectal Cancer Susceptibility Locus in Han Chinese. | Jiang K et al. | โ | 2020 | โ |
| Prediction and management of CAD risk based on genetic stratification. | Roberts R et al. | โ | 2020 | โ |
| The New Frontier of Functional Genomics: From Chromatin Architecture and Noncoding RNAs to Therapeutic Targets. | Papanicolaou N et al. | โ | 2020 | โ |
| Developmental processes regulate craniofacial variation in disease and evolution. | Merkuri F et al. | โ | 2019 | โ |
| Rare and common variant discovery in complex disease: the IBD case study. | Venkataraman GR et al. | โ | 2019 | โ |
| A decade of genome-wide association studies for coronary artery disease: the challenges ahead. | Erdmann J et al. | โ | 2018 | โ |
| Association between FTO gene polymorphisms and HDL cholesterol concentration may cause higher risk of cardiovascular disease in patients with acromegaly. | Franczak A et al. | โ | 2018 | โ |
| Gene editing in the context of an increasingly complex genome. | Blighe K et al. | โ | 2018 | โ |
| Genomic and transcriptomic comparison of allergen and silver nanoparticle-induced mast cell degranulation reveals novel non-immunoglobulin E mediated mechanisms. | Johnson M et al. | โ | 2018 | โ |
| PopHuman: the human population genomics browser. | Casillas S et al. | โ | 2018 | โ |
| A targeted approach to genome-wide studies reveals new genetic associations with central corneal thickness. | Benson MD et al. | โ | 2017 | โ |
| Genetic epidemiology and Mendelian randomization for informing disease therapeutics: Conceptual and methodological challenges. | Paternoster L et al. | โ | 2017 | โ |
| Genetics of common complex diseases: a view from Iceland. | Arnar DO et al. | โ | 2017 | โ |
| The human microbiome. | Blum HE | โ | 2017 | โ |
| Autism genes: the continuum that connects us all. | Parihar R et al. | โ | 2016 | โ |
| Discovering causal interactions using Bayesian network scoring and information gain. | Zeng Z et al. | โ | 2016 | โ |
| Galectin-3 and Its Genetic Variation rs4644 Modulate Enterovirus 71 Infection. | Huang WC et al. | โ | 2016 | โ |
| Genomic variations in non-coding RNAs: Structure, function and regulation. | Bhartiya D et al. | โ | 2016 | โ |
| Candidate gene-environment interaction research: reflections and recommendations. | Dick DM et al. | โ | 2015 | โ |
| Canonical genetic signatures of the adult human brain. | Hawrylycz M et al. | โ | 2015 | โ |
| Combined genetic effects of EGLN1 and VWF modulate thrombotic outcome in hypoxia revealed by Ayurgenomics approach. | Aggarwal S et al. | โ | 2015 | โ |
| Evaluation of a two-stage framework for prediction using big genomic data. | Jiang X et al. | โ | 2015 | โ |
| Genetic architecture of colorectal cancer. | Peters U et al. | โ | 2015 | โ |
| Genetics and heart failure: a concise guide for the clinician. | Skrzynia C et al. | โ | 2015 | โ |
| Genome-wide copy number profiling using high-density SNP array in chickens. | Yi G et al. | โ | 2015 | โ |
| HAlign: Fast multiple similar DNA/RNA sequence alignment based on the centre star strategy. | Zou Q et al. | โ | 2015 | โ |
| Identification of epistatic interactions through genome-wide association studies in sporadic medullary and juvenile papillary thyroid carcinomas. | Luzรณn-Toro B et al. | โ | 2015 | โ |
| LEAP: biomarker inference through learning and evaluating association patterns. | Jiang X et al. | โ | 2015 | โ |
| Learning Predictive Interactions Using Information Gain and Bayesian Network Scoring. | Jiang X et al. | โ | 2015 | โ |
| SNP55, a new functional polymorphism of MDM2-P2 promoter, contributes to allele-specific expression of MDM2 in endometrial cancers. | Okamoto K et al. | โ | 2015 | โ |
| The genomic load of deleterious mutations: relevance to death in infancy and childhood. | Morris JA | โ | 2015 | โ |
| Utility of proteomics in obstetric disorders: a review. | Hernรกndez-Nรบรฑez J et al. | โ | 2015 | โ |
| A comparative analysis of methods for predicting clinical outcomes using high-dimensional genomic datasets. | Jiang X et al. | โ | 2014 | โ |
| Advances in individualized and regenerative medicine. | Blum HE | โ | 2014 | โ |
| A multiplex single nucleotide polymorphism genotyping method using ligase-based mismatch discrimination and CE-SSCP. | Choi W et al. | โ | 2014 | โ |
| A pilot investigation of the association of genetic polymorphisms regulating corticotrophin-releasing hormone with posttraumatic stress and depressive symptoms in medical-surgical intensive care unit survivors. | Davydow DS et al. | โ | 2014 | โ |
| A whole genome SNP genotyping by DNA microarray and candidate gene association study for kidney stone disease. | Rungroj N et al. | โ | 2014 | โ |
| Cell therapies and regenerative medicine. | Blum HE | โ | 2014 | โ |
| Molecular and genetic epidemiology of cancer in low- and medium-income countries. | Malhotra J | โ | 2014 | โ |
| Proteomic and genomic studies of non-alcoholic fatty liver disease--clues in the pathogenesis. | Lim JW et al. | โ | 2014 | โ |
| The axis of progression of disease. | Tartakoff AM et al. | โ | 2014 | โ |
| THRA and DIO2 mutations are unlikely to be a common cause of increased bone mineral density in euthyroid post-menopausal women. | Gogakos A et al. | โ | 2014 | โ |
| Analysis of copy number variations in the sheep genome using 50K SNP BeadChip array. | Liu J et al. | โ | 2013 | โ |
| Contribution of rare and common variants determine complex diseases-Hirschsprung disease as a model. | Alves MM et al. | โ | 2013 | โ |
| Drug delivery interfaces in the 21st century: from science fiction ideas to viable technologies. | Chertok B et al. | โ | 2013 | โ |
| Genome wide association studies for diabetes: perspective on results and challenges. | Torres JM et al. | โ | 2013 | โ |
| Genomic studies of GVHD-lessons learned thus far. | Ting C et al. | โ | 2013 | โ |
| GWAS in autoimmune thyroid disease: redefining our understanding of pathogenesis. | Simmonds MJ | โ | 2013 | โ |
| "He who sees things grow from the beginning will have the finest view of them" a systematic review of genetic studies on psychological traits in infancy. | Papageorgiou KA et al. | โ | 2013 | โ |
| Integrating mechanistic and polymorphism data to characterize human genetic susceptibility for environmental chemical risk assessment in the 21st century. | Mortensen HM et al. | โ | 2013 | โ |
| Next-generation phenotyping: requirements and strategies for enhancing our understanding of genotype-phenotype relationships and its relevance to crop improvement. | Cobb JN et al. | โ | 2013 | โ |
| Population genomics of cardiometabolic traits: design of the University College London-London School of Hygiene and Tropical Medicine-Edinburgh-Bristol (UCLEB) Consortium. | Shah T et al. | โ | 2013 | โ |
| The genetics of human obesity. | Xia Q et al. | โ | 2013 | โ |
| A comparison of cataloged variation between International HapMap Consortium and 1000 Genomes Project data. | Buchanan CC et al. | โ | 2012 | โ |
| Allele-specific gene expression and epigenetic modifications and their application to understanding inheritance and cancer. | Lee MP | โ | 2012 | โ |
| An arrayed human genomic library constructed in the PAC shuttle vector pJCPAC-Mam2 for genome-wide association studies and gene therapy. | Fuesler J et al. | โ | 2012 | โ |
| Association of vitamin D receptor gene polymorphism and calcium urolithiasis in the Chinese Han population. | Wang S et al. | โ | 2012 | โ |
| Candidate pathway based analysis for cleft lip with or without cleft palate. | Zhang TX et al. | โ | 2012 | โ |
| Community engagement about genetic variation research. | Terry SF et al. | โ | 2012 | โ |
| Genetics and genomics in pediatric septic shock. | Wong HR | โ | 2012 | โ |
| Genetics of peripheral artery disease. | Leeper NJ et al. | โ | 2012 | โ |
| Genome-wide association studies in mice. | Flint J et al. | โ | 2012 | โ |
| Insights into the genetic architecture of diabetic nephropathy. | Palmer ND et al. | โ | 2012 | โ |
| Lactation and neonatal nutrition: defining and refining the critical questions. | Neville MC et al. | โ | 2012 | โ |
| Mining pure, strict epistatic interactions from high-dimensional datasets: ameliorating the curse of dimensionality. | Jiang X et al. | โ | 2012 | โ |
| Pharmacogenetic screening for drug therapy: from single gene markers to decision making in the next generation sequencing era. | Tzvetkov M et al. | โ | 2012 | โ |
| A Database of Gene-Environment Interactions Pertaining to Blood Lipid Traits, Cardiovascular Disease and Type 2 Diabetes. | Lee YC et al. | โ | 2011 | โ |
| Advanced molecular biologic techniques in toxicologic disease. | Ward J et al. | โ | 2011 | โ |
| Assessing the pathogenic potential of human Nephronophthisis disease-associated NPHP-4 missense mutations in C. elegans. | Masyukova SV et al. | โ | 2011 | โ |
| Bias in the case-only design applied to studies of gene-environment and gene-gene interaction: a systematic review and meta-analysis. | Dennis J et al. | โ | 2011 | โ |
| Evolution of GPCR: change and continuity. | Strotmann R et al. | โ | 2011 | โ |
| Gastrointestinal and liver diseases: genetic and epigenetic markers. | Blum HE | โ | 2011 | โ |
| Genetic regulation of inflammation-mediated activation of haemostasis: family-based approaches in population studies. | Vohnout B et al. | โ | 2011 | โ |
| Genetic testing: predictive value of genotyping for diagnosis and management of disease. | Ozgรผรง M | โ | 2011 | โ |
| Genomics for disease treatment and prevention. | Bloss CS et al. | โ | 2011 | โ |
| Human genetics and genomics a decade after the release of the draft sequence of the human genome. | Naidoo N et al. | โ | 2011 | โ |
| In silico analysis of the exome for gene discovery. | Hinchcliffe M et al. | โ | 2011 | โ |
| Sensitized phenotypic screening identifies gene dosage sensitive region on chromosome 11 that predisposes to disease in mice. | Ermakova O et al. | โ | 2011 | โ |
| Systematic review of birth cohort studies in Africa. | Campbell A et al. | โ | 2011 | โ |
| The case for launch of an international DNA-based birth cohort study. | Rudan I et al. | โ | 2011 | โ |
| The emergence of human-evolutionary medical genomics. | Crespi BJ | โ | 2011 | โ |
| The genetic basis of panic disorder. | Na HR et al. | โ | 2011 | โ |
| The genetics of asthma and allergic disease: a 21st century perspective. | Ober C et al. | โ | 2011 | โ |
| The human condition: an immunological perspective. | Germain RN et al. | โ | 2011 | โ |
| The Rules of Variation Expanded, Implications for the Research on Compatible Genomics. | Castro-Chavez F | โ | 2011 | โ |
| The search for SNPs, CNVs, and epigenetic variants associated with the complex disease of male infertility. | Carrell DT et al. | โ | 2011 | โ |
| The search for the genetic contribution to autoimmune thyroid disease: the never ending story? | Simmonds MJ et al. | โ | 2011 | โ |
| Unraveling the biological mechanisms in Alzheimer's disease--lessons from genomics. | Borovecki F et al. | โ | 2011 | โ |
| Bioinformatics: Tools to accelerate population science and disease control research. | Forman MR et al. | โ | 2010 | โ |
| Common predisposition alleles for moderately common cancers: bladder cancer. | Kiltie AE | โ | 2010 | โ |
| Coriell Personalized Medicine Collaborative<sup>ยฎ</sup>: a prospective study of the utility of personalized medicine. | Keller MA et al. | โ | 2010 | โ |
| Expectations, validity, and reality in gene expression profiling. | Kim K et al. | โ | 2010 | โ |
| Genetics for the practicing dermatologist. | Feramisco JD et al. | โ | 2010 | โ |
| Genome-wide associations and functional genomic studies of musculoskeletal adverse events in women receiving aromatase inhibitors. | Ingle JN et al. | โ | 2010 | โ |
| Individualized medicine 2010. | Blum HE | โ | 2010 | โ |
| IRAK1 functional genetic variant affects severity of septic shock. | Toubiana J et al. | โ | 2010 | โ |
| Molecular epidemiology and its current clinical use in cancer management. | Hartman M et al. | โ | 2010 | โ |
| Next generation DNA sequencing and the future of genomic medicine. | Anderson MW et al. | โ | 2010 | โ |
| [Pharmacogenetics]. | Merk HF | โ | 2010 | โ |
| Report of the pediatric heart network and national heart, lung, and blood institute working group on the perioperative management of congenital heart disease. | Kaltman JR et al. | โ | 2010 | โ |
| Search for cancer risk factors with microarray-based genome-wide association studies. | Zhang L et al. | โ | 2010 | โ |
| Strategies to improve detection of hypertension genes. | Hunt SC | โ | 2010 | โ |
| Testing computational prediction of missense mutation phenotypes: functional characterization of 204 mutations of human cystathionine beta synthase. | Wei Q et al. | โ | 2010 | โ |
| The effect of algorithms on copy number variant detection. | Tsuang DW et al. | โ | 2010 | โ |
| The National Heart, Lung, and Blood Institute bench to bassinet Program: a new paradigm for translational research. | Kaltman JR et al. | โ | 2010 | โ |
| Toward a better understanding of ADHD: LPHN3 gene variants and the susceptibility to develop ADHD. | Arcos-Burgos M et al. | โ | 2010 | โ |
| Virus-host interactions in hepatitis C virus infection: implications for molecular pathogenesis and antiviral strategies. | Georgel P et al. | โ | 2010 | โ |
| A Classifier-based approach to identify genetic similarities between diseases. | Schaub MA et al. | โ | 2009 | โ |
| Parasite-host interaction in malaria: genetic clues and copy number variation. | Faik I et al. | โ | 2009 | โ |