Whole-genome patterns of common DNA variation in three human populations

被引：859

作者：

Hinds, DA

Stuve, LL

Nilsen, GB

Halperin, E

Eskin, E

Ballinger, DG

Frazer, KA

Cox, DR

机构：

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

[2] Int Comp Sci Inst, Berkeley, CA 94704 USA

[3] Univ Calif San Diego, Dept Comp Sci & Engn, La Jolla, CA 92093 USA

来源：

SCIENCE | 2005年 / 307卷 / 5712期

关键词：

D O I：

10.1126/science.1105436

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：

Individual differences in DNA sequence are the genetic basis of human variability. We have characterized whole-genome patterns of common human DNA variation by genotyping 1,586,383 single-nucleotide polymorphisms (SNPs) in 71 Americans of European, African, and Asian ancestry. Our results indicate that these SNPs capture most common genetic variation as a result of linkage disequilibrium, the correlation among common SNP alleles. We observe a strong correlation between extended regions of linkage disequilibrium and functional genomic elements. Our data provide a toot for exploring many questions that remain regarding the causal role of common human DNA variation in complex human traits and for investigating the nature of genetic variation within and between human populations.

引用

页码：1072 / 1079

页数：8

共 38 条

[31] Detecting recent positive selection in the human genome from haplotype structure [J].

Sabeti, PC ;

Reich, DE ;

Higgins, JM ;

Levine, HZP ;

Richter, DJ ;

Schaffner, SF ;

Gabriel, SB ;

Platko, JV ;

Patterson, NJ ;

McDonald, GJ ;

Ackerman, HC ;

Campbell, SJ ;

Altshuler, D ;

Cooper, R ;

Kwiatkowski, D ;

Ward, R ;

Lander, ES .

NATURE, 2002, 419 (6909) :832-837

[32] A map of human genome sequence variation containing 1.42 million single nucleotide polymorphisms [J].

Sachidanandam, R ;

Weissman, D ;

Schmidt, SC ;

Kakol, JM ;

Stein, LD ;

Marth, G ;

Sherry, S ;

Mullikin, JC ;

Mortimore, BJ ;

Willey, DL ;

Hunt, SE ;

Cole, CG ;

Coggill, PC ;

Rice, CM ;

Ning, ZM ;

Rogers, J ;

Bentley, DR ;

Kwok, PY ;

Mardis, ER ;

Yeh, RT ;

Schultz, B ;

Cook, L ;

Davenport, R ;

Dante, M ;

Fulton, L ;

Hillier, L ;

Waterston, RH ;

McPherson, JD ;

Gilman, B ;

Schaffner, S ;

Van Etten, WJ ;

Reich, D ;

Higgins, J ;

Daly, MJ ;

Blumenstiel, B ;

Baldwin, J ;

Stange-Thomann, NS ;

Zody, MC ;

Linton, L ;

Lander, ES ;

Altshuler, D .

NATURE, 2001, 409 (6822) :928-933

[33] Evidence for gradients of human genetic diversity within and among continents [J].

Serre, D ;

Pääbo, SP .

GENOME RESEARCH, 2004, 14 (09) :1679-1685

[34] The Generic Genome Browser: A building block for a model organism system database [J].

Stein, LD ;

Mungall, C ;

Shu, SQ ;

Caudy, M ;

Mangone, M ;

Day, A ;

Nickerson, E ;

Stajich, JE ;

Harris, TW ;

Arva, A ;

Lewis, S .

GENOME RESEARCH, 2002, 12 (10) :1599-1610

[35]

*U WASH FRED HUTCH, SEATTLESNPS

[36] Amyloid, presenilins, and Alzheimer's disease [J].

Van Gassen, G ;

Annaert, W .

NEUROSCIENTIST, 2003, 9 (02) :117-126

[37]

WEIR BS, 1984, EVOLUTION, V38, P1358, DOI [10.1111/j.1558-5646.1984.tb05657.x, 10.2307/2408641]

[38] The mutation in the mitochondrial aldehyde dehydrogenase (ALDH2) gene responsible for alcohol-induced flushing increases turnover of the enzyme tetramers in a dominant fashion [J].

Xiao, Q ;

Weiner, H ;

Crabb, DW .

JOURNAL OF CLINICAL INVESTIGATION, 1996, 98 (09) :2027-2032

← 1 2 3 4 →