Two newly identified genetic determinants of pigmentation in Europeans

被引：277

作者：

Sulem, Patrick ^{[1
]}

Gudbjartsson, Daniel F. ^{[1
]}

Stacey, Simon N. ^{[1
]}

Helgason, Agnar ^{[1
]}

Rafnar, Thorunn ^{[1
]}

Jakobsdottir, Margret ^{[1
]}

Steinberg, Stacy ^{[1
]}

Gudjonsson, Sigurjon A. ^{[1
]}

Palsson, Arnar ^{[1
]}

Thorleifsson, Gudmar ^{[1
]}

Palsson, Snaebjoern ^{[1
]}

Sigurgeirsson, Bardur ^{[2
,3
]}

Thorisdottir, Kristin ^{[2
,4
]}

Ragnarsson, Rafn ^{[4
]}

Benediktsdottir, Kristrun R. ^{[2
,3
]}

Aben, Katja K. ^{[5
,6
]}

Vermeulen, Sita H. ^{[6
]}

Goldstein, Alisa M. ^{[7
]}

Tucker, Margaret A. ^{[7
]}

Kiemeney, Lambertus A. ^{[5
,6
,8
]}

Olafsson, Jon H. ^{[2
,3
]}

Gulcher, Jeffrey ^{[1
]}

Kong, Augustine ^{[1
]}

Thorsteinsdottir, Unnur ^{[1
]}

Stefansson, Kari ^{[1
]}

机构：

[1] deCODE genet, IS-101 Reykjavik, Iceland

[2] Landspitali Univ Hosp, Dept Dermatol, IS-101 Reykjavik, Iceland

[3] Landspitali Univ Hosp, Dept Pathol, IS-101 Reykjavik, Iceland

[4] Landspitali Univ Hosp, Dept Plast Surg, IS-101 Reykjavik, Iceland

[5] Ctr Comprehens Canc, NL-6501 BG Nijmegen, Netherlands

[6] Radboud Univ Nijmegen, Dept Epidemiol & Biostat, NL-6500 HB Nijmegen, Netherlands

[7] NCI, Genet Epidemiol Branch, Div Canc Epidemiol & Genet, NIH,Dept Hlth & Human Services, Bethesda, MD 20892 USA

[8] Radboud Univ Nijmegen, Dept Urol, NL-6500 HB Nijmegen, Netherlands

来源：

NATURE GENETICS | 2008年 / 40卷 / 07期

关键词：

D O I：

10.1038/ng.160

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We present results from a genome-wide association study for variants associated with human pigmentation characteristics among 5,130 Icelanders, with follow-up analyses in 2,116 Icelanders and 1,214 Dutch individuals. Two coding variants in TPCN2 are associated with hair color, and a variant at the ASIP locus shows strong association with skin sensitivity to sun, freckling and red hair, phenotypic characteristics similar to those affected by well-known mutations in MC1R.

引用

页码：835 / 837

页数：3

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