Magnitude and distribution of linkage disequilibrium in population isolates and implications for genome-wide association studies

被引：189

作者：

Service, S

DeYoung, J

Karayiorgou, M

Roos, JL

Pretorious, H

Bedoya, G

Ospina, J

Ruiz-Linares, A

Macedo, A

Palha, JA

Heutink, P

Aulchenko, Y

Oostra, B

van Duijn, C

Jarvelin, MR

Varilo, T

Peddle, L

Rahman, P

Piras, G

Monne, M

Murray, S

Galver, L

Peltonen, L

Sabatti, C

Collins, A

Freimer, N ^{[1
]}

机构：

[1] Univ Calif Los Angeles, Ctr Neurobehav Genet, Los Angeles, CA 90095 USA

[2] Univ Calif Los Angeles, So Calif Genotyping Consortium, Los Angeles, CA 90095 USA

[3] Rockefeller Univ, New York, NY 10021 USA

[4] Univ Pretoria, Dept Psychiat, ZA-0001 Pretoria, South Africa

[5] Weskoppies Hosp, ZA-0001 Pretoria, South Africa

[6] Univ Antioquia, Mol Genet Lab, Medellin, Colombia

[7] Univ Antioquia, Dept Psychiat, Medellin, Colombia

[8] UCL, Galton Lab, Dept Biol, London NW1 2HE, England

[9] Univ Coimbra, Fac Med, Inst Med Psychol, P-3000033 Coimbra, Portugal

[10] Univ Minho, Sch Hlth Sci, Life & Hlth Sci Res Inst ICVS, P-4704553 Braga, Portugal

[11] Vrije Univ Amsterdam, Dept Human Genet, Sect Med Genom, NL-1081 BT Amsterdam, Netherlands

[12] Vrije Univ Amsterdam, Ctr Neurogenom & Cognit Res, NL-1081 BT Amsterdam, Netherlands

[13] Vrije Univ Amsterdam, Med Ctr, NL-1081 BT Amsterdam, Netherlands

[14] Erasmus MC, Genet Epidemiol Unit, Dept Epidemiol & Biostat, NL-3000 DR Rotterdam, Netherlands

[15] Erasmus MC, Dept Clin Genet, NL-3000 DR Rotterdam, Netherlands

[16] Univ Oulu, Dept Publ Hlth Sci & Gen Practice, SF-90220 Oulu, Finland

[17] Imperial Coll London, Dept Epidemiol & Publ Hlth, London W2 1PG, England

[18] Univ Helsinki, Dept Med Genet, FIN-00290 Helsinki, Finland

[19] Biomedicum, Natl Publ Hlth Inst, Dept Mol Med, Helsinki 00290, Finland

[20] Newfound Genom, St John, NF A1C 2H5, Canada

[21] Mem Univ Newfoundland, St John, NF A1C 5S7, Canada

[22] San Francesco Hosp, Div Haematol, Nuoro, Italy

[23] Illumina Inc, San Diego, CA 92121 USA

[24] Univ Calif Los Angeles, Dept Human Genet, Los Angeles, CA 90095 USA

[25] Univ Calif Los Angeles, Dept Stat, Los Angeles, CA 90095 USA

[26] Univ Southampton, Southampton Gen Hosp, Human Genet Res Div, Southampton SO16 6YA, Hants, England

[27] Univ Calif Los Angeles, Jane & Terry Semel Inst Neurosci & Human Behav, Los Angeles, CA 90095 USA

[28] Univ Calif Los Angeles, Dept Psychiat, Los Angeles, CA 90095 USA

来源：

NATURE GENETICS | 2006年 / 38卷 / 05期

基金：

英国惠康基金;

关键词：

D O I：

10.1038/ng1770

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

The genome-wide distribution of linkage disequilibrium (LD) determines the strategy for selecting markers for association studies, but it varies between populations. We assayed LD in large samples (200 individuals) from each of 11 well-described population isolates and an outbred European-derived sample, using SNP markers spaced across chromosome 22. Most isolates show substantially higher levels of LD than the outbred sample and many fewer regions of very low LD (termed 'holes'). Young isolates known to have had relatively few founders show particularly extensive LD with very few holes; these populations offer substantial advantages for genome-wide association mapping.

引用

页码：556 / 560

页数：5

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