A haplotype map of the human genome

被引：4160

作者：

Altshuler, D

Brooks, LD

Chakravarti, A

Collins, FS

Daly, MJ

Donnelly, P

Gibbs, RA

Belmont, JW

Boudreau, A

Leal, SM

Hardenbol, P

Pasternak, S

Wheeler, DA

Willis, TD

Yu, FL

Yang, HM

Zeng, CQ

Gao, Y

Hu, HR

Hu, WT

Li, CH

Lin, W

Liu, SQ

Pan, H

Tang, XL

Wang, J

Wang, W

Yu, J

Zhang, B

Zhang, QR

Zhao, HB

Zhao, H

Zhou, J

Gabriel, SB

Barry, R

Blumenstiel, B

Camargo, A

Defelice, M

Faggart, M

Goyette, M

Gupta, S

Moore, J

Nguyen, H

Onofrio, RC

Parkin, M

Roy, J

Stahl, E

Winchester, E

Ziaugra, L

Shen, Y

机构：

[1] Harvard Univ, Broad Inst, Cambridge, MA 02139 USA

[2] MIT, Cambridge, MA 02139 USA

[3] Massachusetts Gen Hosp, Boston, MA 02114 USA

[4] Harvard Univ, Sch Med, Simches Res Ctr, Boston, MA 02114 USA

[5] Johns Hopkins Univ, Sch Med, McKusick Nathans Inst Genet Med, Baltimore, MD 21205 USA

[6] Baylor Coll Med, Human Genome Sequencing Ctr, Dept Mol & Human Genet, Houston, TX 77030 USA

[7] ParAllele Biosci Inc, San Francisco, CA 94080 USA

[8] Chinese Acad Sci, Beijing Genom Inst, Beijing 100300, Peoples R China

[9] Chinese Natl Human Genome Ctr, Beijing Econ Technol Dev Area, Beijing 100176, Peoples R China

[10] Chinese Natl Human Genome Ctr Shanghai, Shanghai 201203, Peoples R China

[11] Chinese Univ Hong Kong, Dept Biochem, Croucher Lab Human Genom, Shatin, Hong Kong, Peoples R China

[12] Hong Kong Univ Sci & Technol, Dept Biochem, Kowloon, Hong Kong, Peoples R China

[13] Illumina, San Diego, CA 92121 USA

[14] Prognosys Biosci Inc, San Diego, CA 92121 USA

[15] McGill Univ, Montreal, PQ H3A 1A4, Canada

[16] Genome Quebec Innovat Ctr, Montreal, PQ H3A 1A4, Canada

[17] Univ Montreal, Publ Law Res Ctr CRDP, Montreal, PQ H3C 3J7, Canada

[18] Perlegen Sci Inc, Mountain View, CA 94043 USA

[19] Univ Calif San Francisco, Cardiovasc Res Inst, San Francisco, CA 94143 USA

[20] Washington Univ, Sch Med, Dept Genet, St Louis, MO 63110 USA

[21] Univ Hong Kong, Genome Res Ctr, Pokfulam, Hong Kong, Peoples R China

[22] Univ Tokyo, Inst Med Sci, Minato Ku, Tokyo 1088639, Japan

[23] RIKEN, SNP Res Ctr, Tsurumi Ku, Yokohama, Kanagawa 2300045, Japan

[24] Wellcome Trust Sanger Inst, Cambridge CB10 1SA, England

[25] Solexa Ltd, Saffron Walden CB10 1XL, Essex, England

[26] Cold Spring Harbor Lab, New York, NY 11724 USA

[27] Univ Michigan, Ctr Stat Genet, Dept Biostat, Ann Arbor, MI 48109 USA

[28] Univ Calif Santa Cruz, Ctr Biomol Sci & Engn, Santa Cruz, CA 95064 USA

[29] Univ Washington, Dept Stat, Washington, DC 98195 USA

[30] Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England

[31] N Carolina State Univ, Bioinformat Res Ctr, Raleigh, NC 27695 USA

[32] Natl Human Genome Res Inst, US Natl Inst Hlth, Bethesda, MD 20892 USA

[33] US Natl Inst Hlth, Natl Lib Med, Natl Ctr Biotechnol Informat, Bethesda, MD 20894 USA

[34] Beijing Normal Univ, Beijing 100875, Peoples R China

[35] Hlth Sci Univ Hokkaido, Ishikari, Hokkaido, Japan

[36] Shinshu Univ, Sch Med, Dept Med Genet, Matsumoto, Nagano 3908621, Japan

[37] UNESCO, Bangkok 10110, Thailand

[38] Univ Tsukuba, Eubios Eth Inst, Tsukuba 3058691, Japan

[39] Howard Univ, Natl Human Genome Ctr, Washington, DC 20059 USA

[40] Univ Ibadan, Coll Med, Ibadan, Oyo State, Nigeria

[41] Case Western Reserve Univ, Sch Med, Dept Bioeth, Cleveland, OH 44106 USA

[42] Univ Utah, Eccles Inst Human Genet, Dept Human Genet, Salt Lake City, UT 84112 USA

[43] Chinese Acad Social Sci, Ctr Appl Eth, Beijing 100054, Peoples R China

[44] Genet Interest Grp, London N1 3QP, England

[45] Kyoto Univ, Inst Res Humanities, Sakyo Ku, Kyoto 6068501, Japan

[46] Grad Sch Biostudies, Sakyo Ku, Kyoto 6068501, Japan

[47] Nagasaki Univ, Grad Sch Biomed Sci, Dept Human Genet, Nagasaki 8528523, Japan

[48] Univ Oklahoma, Dept Anthropol, Norman, OK 73019 USA

[49] Vanderbilt Univ, Ctr Genet & Hlth Policy, Nashville, TN 37232 USA

[50] Wellcome Trust Res Labs, London NW1 2BE, England

来源：

NATURE | 2005年 / 437卷 / 7063期

基金：

英国惠康基金;

关键词：

D O I：

10.1038/nature04226

中图分类号：

O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

Inherited genetic variation has a critical but as yet largely uncharacterized role in human disease. Here we report a public database of common variation in the human genome: more than one million single nucleotide polymorphisms ( SNPs) for which accurate and complete genotypes have been obtained in 269 DNA samples from four populations, including ten 500-kilobase regions in which essentially all information about common DNA variation has been extracted. These data document the generality of recombination hotspots, a block-like structure of linkage disequilibrium and low haplotype diversity, leading to substantial correlations of SNPs with many of their neighbours. We show how the HapMap resource can guide the design and analysis of genetic association studies, shed light on structural variation and recombination, and identify loci that may have been subject to natural selection during human evolution.

引用

页码：1299 / 1320

页数：22

共 103 条

[91] Association of the T-cell regulatory gene CTLA4 with susceptibility to autoimmune disease [J].

Ueda, H ;

Howson, JMM ;

Esposito, L ;

Heward, J ;

Snook, H ;

Chamberlain, G ;

Rainbow, DB ;

Hunter, KMD ;

Smith, AN ;

Di Genova, G ;

Herr, MH ;

Dahlman, I ;

Payne, F ;

Smyth, D ;

Lowe, C ;

Twells, RCJ ;

Howlett, S ;

Healy, B ;

Nutland, S ;

Rance, HE ;

Everett, V ;

Smink, LJ ;

Lam, AC ;

Cordell, HJ ;

Walker, NM ;

Bordin, C ;

Hulme, J ;

Motzo, C ;

Cucca, F ;

Hess, JF ;

Metzker, ML ;

Rogers, J ;

Gregory, S ;

Allahabadia, A ;

Nithiyananthan, R ;

Tuomilehto-Wolf, E ;

Tuomilehto, J ;

Bingley, P ;

Gillespie, KM ;

Undlien, DE ;

Ronningen, KS ;

Guja, C ;

Ionescu-Tirgoviste, C ;

Savage, DA ;

Maxwell, AP ;

Carson, DJ ;

Patterson, CC ;

Franklyn, JA ;

Clayton, DG ;

Peterson, LB .

NATURE, 2003, 423 (6939) :506-511

[92] The phylogeography of Y chromosome binary haplotypes and the origins of modern human populations [J].

Underhill, PA ;

Passarino, G ;

Lin, AA ;

Shen, P ;

Lahr, MM ;

Foley, RA ;

Oefner, PJ ;

Cavalli-Sforza, LL .

ANNALS OF HUMAN GENETICS, 2001, 65 :43-62

[93] The sequence of the human genome [J].

Venter, JC ;

Adams, MD ;

Myers, EW ;

Li, PW ;

Mural, RJ ;

Sutton, GG ;

Smith, HO ;

Yandell, M ;

Evans, CA ;

Holt, RA ;

Gocayne, JD ;

Amanatides, P ;

Ballew, RM ;

Huson, DH ;

Wortman, JR ;

Zhang, Q ;

Kodira, CD ;

Zheng, XQH ;

Chen, L ;

Skupski, M ;

Subramanian, G ;

Thomas, PD ;

Zhang, JH ;

Miklos, GLG ;

Nelson, C ;

Broder, S ;

Clark, AG ;

Nadeau, C ;

McKusick, VA ;

Zinder, N ;

Levine, AJ ;

Roberts, RJ ;

Simon, M ;

Slayman, C ;

Hunkapiller, M ;

Bolanos, R ;

Delcher, A ;

Dew, I ;

Fasulo, D ;

Flanigan, M ;

Florea, L ;

Halpern, A ;

Hannenhalli, S ;

Kravitz, S ;

Levy, S ;

Mobarry, C ;

Reinert, K ;

Remington, K ;

Abu-Threideh, J ;

Beasley, E .

SCIENCE, 2001, 291 (5507) :1304-+

[94] Initial sequencing and comparative analysis of the mouse genome [J].

Waterston, RH ;

Lindblad-Toh, K ;

Birney, E ;

Rogers, J ;

Abril, JF ;

Agarwal, P ;

Agarwala, R ;

Ainscough, R ;

Alexandersson, M ;

An, P ;

Antonarakis, SE ;

Attwood, J ;

Baertsch, R ;

Bailey, J ;

Barlow, K ;

Beck, S ;

Berry, E ;

Birren, B ;

Bloom, T ;

Bork, P ;

Botcherby, M ;

Bray, N ;

Brent, MR ;

Brown, DG ;

Brown, SD ;

Bult, C ;

Burton, J ;

Butler, J ;

Campbell, RD ;

Carninci, P ;

Cawley, S ;

Chiaromonte, F ;

Chinwalla, AT ;

Church, DM ;

Clamp, M ;

Clee, C ;

Collins, FS ;

Cook, LL ;

Copley, RR ;

Coulson, A ;

Couronne, O ;

Cuff, J ;

Curwen, V ;

Cutts, T ;

Daly, M ;

David, R ;

Davies, J ;

Delehaunty, KD ;

Deri, J ;

Dermitzakis, ET .

NATURE, 2002, 420 (6915) :520-562

[95] Selection and evaluation of tagging SNPs in the neuronal-sodium-channel gene SCN1A:: Implications for linkage-disequilibrium gene mapping [J].

Weale, ME ;

Depondt, C ;

Macdonald, SJ ;

Smith, A ;

Lai, PS ;

Shorvon, SD ;

Wood, NW ;

Goldstein, DB .

AMERICAN JOURNAL OF HUMAN GENETICS, 2003, 73 (03) :551-565

[96] A 2ND-GENERATION LINKAGE MAP OF THE HUMAN GENOME [J].

WEISSENBACH, J ;

GYAPAY, G ;

DIB, C ;

VIGNAL, A ;

MORISSETTE, J ;

MILLASSEAU, P ;

VAYSSEIX, G ;

LATHROP, M .

NATURE, 1992, 359 (6398) :794-801

[97] A note on exact tests of Hardy-Weinberg equilibrium [J].

Wigginton, JE ;

Cutler, DJ ;

Abecasis, GR .

AMERICAN JOURNAL OF HUMAN GENETICS, 2005, 76 (05) :887-893

[98] Comparison of fine-scale recombination rates in humans and chimpanzees [J].

Winckler, W ;

Myers, SR ;

Richter, DJ ;

Onofrio, RC ;

McDonald, GJ ;

Bontrop, RE ;

McVean, GAT ;

Gabriel, SB ;

Reich, D ;

Donnelly, P ;

Altshuler, D .

SCIENCE, 2005, 308 (5718) :107-111

[99]

WRIGHT S, 1969, EVOLUTION GENETICS P, V2, P294

[100] Comparison of human genetic and sequence-based physical maps [J].

Yu, A ;

Zhao, CF ;

Fan, Y ;

Jang, WH ;

Mungall, AJ ;

Deloukas, P ;

Olsen, A ;

Doggett, NA ;

Ghebranious, N ;

Broman, KW ;

Weber, JL .

NATURE, 2001, 409 (6822) :951-953

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