A HapMap harvest of insights into the genetics of common disease

The Journal of Clinical Investigation
Teri A ManolioFrancis S Collins


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.


Jul 9, 2009·JAMA : the Journal of the American Medical Association·Ramachandran S VasanStefan Blankenberg
Nov 28, 2012·Der Hautarzt; Zeitschrift für Dermatologie, Venerologie, und verwandte Gebiete·P Itin, D A Salgado
Mar 23, 2011·World Journal of Surgery·F Charles BrunicardiChangyi Chen
Jun 5, 2010·Mammalian Genome : Official Journal of the International Mammalian Genome Society·Haifeng ShaoJoseph H Nadeau
Jul 7, 2011·Mammalian Genome : Official Journal of the International Mammalian Genome Society·Melinda R DwinellAron M Geurts
Mar 3, 2012·Langenbeck's Archives of Surgery·Marian GradeB Michael Ghadimi
Oct 22, 2009·Virchows Archiv : an International Journal of Pathology·Andrew P Feinberg
Apr 23, 2009·Human Genetics·Barbara FrankeS V Faraone
Nov 26, 2009·Human Genetics·Caroline Fiona Wright, Mark Kroese
Mar 31, 2010·Human Genetics·Daniel J Schaid, Jason P Sinnwell
Feb 1, 2011·Human Genetics·Brian L YaspanJonathan L Haines
Jun 28, 2011·Human Genetics·Madeleine J MurtaghPaul R Burton
Mar 20, 2009·Surgical Endoscopy·T LiakakosA Macheras
Feb 9, 2010·European Child & Adolescent Psychiatry·Johannes HebebrandAnke Hinney
Dec 17, 2011·Age·Alexander M Kulminski, Irina Culminskaya
May 11, 2012·Current Diabetes Reports·Nicholette D Palmer, Barry I Freedman
Mar 24, 2009·Current Psychiatry Reports·Tracey L Petryshen, David L Pauls
Feb 26, 2013·Current Psychiatry Reports·Matthew Ezewudo, Michael E Zwick
Nov 10, 2012·Theory in Biosciences = Theorie in Den Biowissenschaften·Hong Li
Jan 1, 2010·Indian Journal of Clinical Biochemistry : IJCB·G P George, Rama Devi Mittal
Feb 13, 2013·Journal of Community Genetics·Beth A TariniBrian J Zikmund-Fisher
May 10, 2012·Journal of Applied Genetics·José E BelizárioJosé Xavier-Neto
Dec 17, 2009·Biological Psychiatry·F J McMahon
Oct 20, 2012·Theoretical Population Biology·Lucy HuangNoah A Rosenberg
Mar 18, 2010·European Journal of Human Genetics : EJHG·Konstantinos C M SiontisJohn P A Ioannidis
Mar 24, 2011·European Journal of Human Genetics : EJHG·Wei YangC Charles Gu
May 31, 2012·European Journal of Human Genetics : EJHG·Binod NeupaneJoseph Beyene
Sep 15, 2012·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Sowmiya MoorthieCaroline F Wright
Jan 12, 2013·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Teri A ManolioGeoffrey S Ginsburg
Jan 23, 2009·Journal of Human Genetics·Hywel J WilliamsMichael C O'Donovan
Jul 25, 2009·Journal of Human Genetics·Asako KoikeKatsushi Tokunaga
Dec 24, 2010·Journal of Human Genetics·Hui-Qi QuJoseph B McCormick
May 3, 2013·Journal of Human Genetics·Yuki HataKenichi Tanaka
Apr 8, 2009·Molecular Psychiatry·M Y M NgC M Lewis


Oct 25, 1996·Science·Eric S Lander
Dec 31, 1997·Science·Francis S CollinsA Charkravarti
May 15, 1999·Dementia and Geriatric Cognitive Disorders·D C Rubinsztein, D F Easton
Mar 10, 2001·Nature·Eric S LanderInternational Human Genome Sequencing Consortium
Mar 10, 2001·Nature·R SachidanandamInternational SNP Map Working Group
Aug 30, 2001·Trends in Genetics : TIG·David E Reich, Eric S Lander
Jan 23, 2002·Molecular Psychiatry·N Weidner, M H Tuszynski
May 25, 2002·Science·Stacey B GabrielDavid Altshuler
Sep 28, 2002·Human Molecular Genetics·Jonathan K Pritchard, Nancy J Cox
Dec 25, 2002·Current Biology : CB·Richard F Harris
Jan 24, 2003·Nature·Svante Pääbo
Jan 24, 2003·Nature·Aravinda Chakravarti, Peter Little
Feb 15, 2003·American Journal of Human Genetics·Adele A MitchellAravinda Chakravarti
Nov 12, 2003·Molecular Psychiatry·E J C G van den Oord, B M Neale
Dec 20, 2003·Nature·International HapMap Consortium
Mar 18, 2004·Journal of the National Cancer Institute·Sholom WacholderNathaniel Rothman
Apr 24, 2004·Science·Gilean A T McVeanPeter Donnelly
May 22, 2004·Nature Reviews. Genetics·International HapMap Consortium
Oct 22, 2004·Nature·International Human Genome Sequencing Consortium
Nov 27, 2004·The New England Journal of Medicine·Alan E GuttmacherRichard H Carmona
Feb 18, 2005·Nature Reviews. Genetics·Joel N Hirschhorn, Mark J Daly
Feb 18, 2005·Nature Reviews. Genetics·William Y S WangJohn A Todd
Mar 12, 2005·Science·Robert J KleinJosephine Hoh
Mar 23, 2005·Nature Methods·Hajime MatsuzakiRui Mei
May 17, 2005·Nature Genetics·Eray TuzunEvan E Eichler
May 28, 2005·Nature Genetics·Ann-Christine Syvänen
Jun 7, 2005·Nature Genetics·Kristel Van SteenChristoph Lange
Oct 29, 2005·Nature·International HapMap Consortium
Dec 6, 2005·Nature Genetics·David A HindsKelly A Frazer
Dec 22, 2005·Nature Methods·Frank J SteemersKevin L Gunderson
Feb 16, 2006·European Journal of Human Genetics : EJHG·Joseph D Terwilliger, Tero Hiekkalinna
Feb 24, 2006·PLoS Biology·Benjamin F VoightJonathan K Pritchard
May 2, 2006·Nature Genetics·Dan E ArkingAravinda Chakravarti
May 3, 2006·Human Molecular Genetics·Lars FeukStephen W Scherer
Oct 21, 2006·Science·Andrew DewanJosephine Hoh
Oct 24, 2006·Cell·William Y Kim, Norman E Sharpless
Oct 24, 2006·Nature Genetics·Paul I W de BakkerDavid Altshuler

Related Concepts

Genome-Wide Association Study
Biochemical Pathway
Human Genetics
Genetics, Population
Genetic Association Studies
Genome Mapping
Linkage Disequilibrium
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