Genetic determinants of hair, eye and skin pigmentation in Europeans

被引：546

作者：

Sulem, Patrick

Gudbjartsson, Daniel F.

Stacey, Simon N.

Helgason, Agnar

Rafnar, Thorunn

Magnusson, Kristinn P.

Manolescu, Andrei

Karason, Ari

Palsson, Arnar

Thorleifsson, Gudmar

Jakobsdottir, Margret

Steinberg, Stacy

Palsson, Snaebjorn

Jonasson, Fridbert

Sigurgeirsson, Bardur

Thorisdottir, Kristin

Ragnarsson, Rafn

Benediktsdottir, Kristrun R.

Aben, Katja K.

Kiemeney, Lambertus A.

Olafsson, Jon H.

Gulcher, Jeffrey

Kong, Augie

Thorsteinsdottir, Unnur

Stefansson, Kari

机构：

[1] DeCODE Genet, IS-101 Reykjavik, Iceland

[2] Landspitali Univ Hosp, Dept Ophthalmol, Reykjavik, Iceland

[3] Landspitali Univ Hosp, Dept Dermatol, Reykjavik, Iceland

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

[5] Landspitali Univ Hosp, Dept Anatomopathol, Reykjavik, Iceland

[6] Radboud Univ Nijmegen, Comprehens Canc Ctr E, Dept Epidemiol & Biostat, Nijmegen, Netherlands

[7] Radboud Univ Nijmegen, Med Ctr, Dept Epidemiol & Biostat, Nijmegen, Netherlands

来源：

NATURE GENETICS | 2007年 / 39卷 / 12期

关键词：

D O I：

10.1038/ng.2007.13

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Hair, skin and eye colors are highly heritable and visible traits in humans. We carried out a genome-wide association scan for variants associated with hair and eye pigmentation, skin sensitivity to sun and freckling among 2,986 Icelanders. We then tested the most closely associated SNPs from six regions-four not previously implicated in the normal variation of human pigmentation-and replicated their association in a second sample of 2,718 Icelanders and a sample of 1,214 Dutch. The SNPs from all six regions met the criteria for genome-wide significance. A variant in SLC24A4 is associated with eye and hair color, a variant near KITLG is associated with hair color, two coding variants in TYR are associated with eye color and freckles, and a variant on 6p25.3 is associated with freckles. The fifth region provided refinements to a previously reported association in OCA2, and the sixth encompasses previously described variants in MC1R.

引用

页码：1443 / 1452

页数：10

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