Comprehensive Association Analysis of Candidate Genes for Generalized Vitiligo Supports XBP1, FOXP3, and TSLP

被引：96

作者：

Birlea, Stanca A. ^{[1
,2
]}

Jin, Ying ^{[1
,3
]}

Bennett, Dorothy C. ^{[4
]}

Herbstman, Deborah M. ^{[5
]}

Wallace, Margaret R. ^{[5
]}

McCormack, Wayne T. ^{[6
]}

Kemp, E. Helen ^{[7
]}

Gawkrodger, David J. ^{[8
]}

Weetman, Anthony P. ^{[7
]}

Picardo, Mauro ^{[9
]}

Leone, Giovanni ^{[10
]}

Taieb, Alain ^{[10
]}

Jouary, Thomas ^{[10
]}

Ezzedine, Khaled ^{[10
]}

van Geel, Nanja ^{[11
]}

Lambert, Jo ^{[11
]}

Overbeck, Andreas ^{[12
]}

Fain, Pamela R. ^{[1
,3
,13
]}

Spritz, Richard A. ^{[1
,3
]}

机构：

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

[2] Univ Colorado, Dept Dermatol, Sch Med, Aurora, CO 80045 USA

[3] Univ Colorado, Dept Pediat, Sch Med, Aurora, CO 80045 USA

[4] St Georges Univ London, Div Basic Med Sci, London, England

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

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

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

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

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

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

[11] Ghent Univ Hosp, Dept Dermatol, B-9000 Ghent, Belgium

[12] Lumiderm, Madrid, Spain

[13] Univ Colorado, Barbara Davis Ctr Childhood Diabet, Sch Med, Aurora, CO 80045 USA

来源：

JOURNAL OF INVESTIGATIVE DERMATOLOGY | 2011年 / 131卷 / 02期

基金：

美国国家卫生研究院;

关键词：

ANGIOTENSIN-CONVERTING ENZYME; NON-SEGMENTAL VITILIGO; KOREAN POPULATION; SUSCEPTIBILITY LOCI; AUTOIMMUNE-DISEASES; CATALASE GENE; FUNCTIONAL POLYMORPHISMS; NONSEGMENTAL VITILIGO; CHINESE POPULATIONS; GUJARAT POPULATION;

D O I：

10.1038/jid.2010.337

中图分类号：

R75 [皮肤病学与性病学];

学科分类号：

100206 ;

摘要：

We previously carried out a genome-wide association study of generalized vitiligo (GV) in non-Hispanic whites, identifying 13 confirmed susceptibility loci. In this study, we re-analyzed the genome-wide data set (comprising 1,392 cases and 2,629 controls) to specifically test association of all 33 GV candidate genes that have previously been suggested for GV, followed by meta-analysis incorporating both current and previously published data. We detected association of three of the candidate genes tested: TSLP (rs764916, P=3.0E-04, odds ratio (OR) = 1.60; meta-P for rs3806933 = 3.1E-03), XBP1 (rs6005863, P = 3.6E-04, OR = 1.17; meta-P for rs2269577 = 9.5E-09), and FOXP3 (rs11798415, P = 5.8E-04, OR = 1.19). Association of GV with CTLA4 (rs12992492, P = 5.9E-05, OR = 1.20; meta-P for rs231775 = 1.0E-04) seems to be secondary to epidemiological association with other concomitant autoimmune diseases. Within the major histocompatibility complex (MHC), at 6p21.33, association with TAP1-PSMB8 (rs3819721, P = 5.2E-06) seems to derive from linkage disequilibrium with major primary signals in the MHC class I and class II regions.

引用

页码：371 / 381

页数：11

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