Genome-wide association analyses identify 13 new susceptibility loci for generalized vitiligo

被引：248

作者：

Jin, Ying ^{[1
,2
]}

Birlea, Stanca A. ^{[1
,3
]}

Fain, Pamela R. ^{[1
,2
,4
]}

Ferrara, Tracey M. ^{[1
]}

Ben, Songtao ^{[1
]}

Riccardi, Sheri L. ^{[1
]}

Cole, Joanne B. ^{[1
]}

Gowan, Katherine ^{[1
]}

Holland, Paulene J. ^{[1
]}

Bennett, Dorothy C. ^{[5
]}

Luiten, Rosalie M. ^{[6
,7
]}

Wolkerstorfer, Albert ^{[6
,7
]}

van der Veen, J. P. Wietze ^{[6
,7
]}

Hartmann, Anke ^{[8
]}

Eichner, Saskia ^{[8
]}

Schuler, Gerold ^{[8
]}

van Geel, Nanja ^{[9
]}

Lambert, Jo ^{[9
]}

Kemp, E. Helen ^{[10
]}

Gawkrodger, David J. ^{[11
]}

Weetman, Anthony P. ^{[10
]}

Taieb, Alain ^{[12
]}

Jouary, Thomas ^{[12
]}

Ezzedine, Khaled ^{[12
]}

Wallace, Margaret R. ^{[13
]}

McCormack, Wayne T. ^{[14
]}

Picardo, Mauro ^{[15
]}

Leone, Giovanni ^{[15
]}

Overbeck, Andreas ^{[18
]}

Silverberg, Nanette B. ^{[16
,17
]}

Spritz, Richard A. ^{[1
,2
]}

机构：

[1] Univ Colorado, Sch Med, Human Med Genet Program, Aurora, CO 80045 USA

[2] Univ Colorado, Sch Med, Dept Pediat, Aurora, CO USA

[3] Univ Colorado, Sch Med, Dept Dermatol, Aurora, CO USA

[4] Univ Colorado, Sch Med, Barbara Davis Ctr Childhood Diabet, Aurora, CO USA

[5] Univ London, Div Biomed Sci, London, England

[6] Univ Amsterdam, Acad Med Ctr, Dept Dermatol, NL-1105 AZ Amsterdam, Netherlands

[7] Univ Amsterdam, Acad Med Ctr, Netherlands Inst Pigment Disorders, NL-1105 AZ Amsterdam, Netherlands

[8] Univ Hosp Erlangen, Dept Dermatol, Erlangen, Germany

[9] Ghent Univ Hosp, Dept Dermatol, Ghent, Belgium

[10] Univ Sheffield, Sch Med, Dept Human Metab, Sheffield, S Yorkshire, England

[11] Royal Hallamshire Hosp, Dept Dermatol, Sheffield S10 2JF, S Yorkshire, England

[12] Hop St Andre, Dept Dermatol, Ctr Reference Malad Rares Peau, Bordeaux, France

[13] Univ Florida, Coll Med, Dept Mol Genet & Microbiol, Gainesville, FL USA

[14] Univ Florida, Coll Med, Dept Pathol Immunol & Lab Med, Gainesville, FL USA

[15] Ist Dermatol S Maria & S Gallicano, Lab Fisiopatol Cutanea, Rome, Italy

[16] Columbia Univ Coll Phys & Surg, Dept Dermatol, New York, NY 10032 USA

[17] St Lukes Roosevelt Hosp, New York, NY USA

[18] Lumiderm, Madrid, Spain

来源：

NATURE GENETICS | 2012年 / 44卷 / 06期

基金：

美国国家卫生研究院;

关键词：

SYSTEMIC-LUPUS-ERYTHEMATOSUS; EYED-DILUTION LOCUS; CELIAC-DISEASE; RHEUMATOID-ARTHRITIS; MULTIPLE-SCLEROSIS; COMMON VARIANTS; IRIS COLOR; RISK LOCI; GENE; MELANOMA;

D O I：

10.1038/ng.2272

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We previously reported a genome-wide association study (GWAS) identifying 14 susceptibility loci for generalized vitiligo. We report here a second GWAS (450 individuals with vitiligo (cases) and 3,182 controls), an independent replication study (1,440 cases and 1,316 controls) and a meta-analysis (3,187 cases and 6,723 controls) identifying 13 additional vitiligo-associated loci. These include OCA2-HERC2 (combined P = 3.80 x 10(-8)), MC1R (P = 1.82 x 10(-13)), a region near TYR (P = 1.57 x 10(-13)), IFIH1 (P = 4.91 x 10(-15)), CD80 (P = 3.78 x 10(-10)), CLNK (P = 1.56 x 10(-8)), BACH2 (P = 2.53 x 10(-8)), SLA (P = 1.58 x 10(-8)), CASP7 (P = 3.56 x 10(-8)), CD44 (P = 1.78 x 10(-9)), IKZF4 (P = 2.75 x 10(-14)), SH2B3 (P = 3.54 x 10(-18)) and TOB2 (P = 6.81 x 10(-10)). Most vitiligo susceptibility loci encode immunoregulatory proteins or melanocyte components that likely mediate immune targeting and the relationships among vitiligo, melanoma, and eye, skin and hair coloration.

引用

页码：676 / U94

页数：6

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