Genome-Wide Analysis Identifies a Quantitative Trait Locus in the MHC Class II Region Associated with Generalized Vitiligo Age of Onset

被引：55

作者：

Jin, Ying ^{[1
,2
]}

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

Fain, Pamela R. ^{[1
,2
,11
]}

Gowan, Katherine ^{[1
]}

Riccardi, Sheri L. ^{[1
]}

Holland, Paulene J. ^{[1
]}

Bennett, Dorothy C. ^{[12
]}

Herbstman, Deborah M. ^{[13
]}

Wallace, Margaret R. ^{[13
]}

McCormack, Wayne T. ^{[10
]}

Kemp, E. Helen ^{[9
]}

Gawkrodger, David J. ^{[8
]}

Weetman, Anthony P. ^{[9
]}

Picardo, Mauro ^{[7
]}

Leone, Giovanni ^{[7
]}

Taieb, Alain ^{[4
]}

Jouary, Thomas ^{[4
]}

Ezzedine, Khaled ^{[4
]}

van Geel, Nanny ^{[5
]}

Lambert, Jo ^{[5
]}

Overbeck, Andreas ^{[6
]}

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

机构：

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

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

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

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

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

[6] Lumiderm, Madrid, Spain

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

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

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

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

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

[12] Univ London, Div Basic Med Sci, London, England

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

来源：

JOURNAL OF INVESTIGATIVE DERMATOLOGY | 2011年 / 131卷 / 06期

基金：

美国国家卫生研究院;

关键词：

EARLY DISEASE ONSET; RHEUMATOID-ARTHRITIS; SUSCEPTIBILITY LOCI; AUTOIMMUNE-DISEASES; BTNL2; POLYMORPHISM; FAMILIES; RISK;

D O I：

10.1038/jid.2011.12

中图分类号：

R75 [皮肤病学与性病学];

学科分类号：

100206 ;

摘要：

Generalized vitiligo is a common autoimmune disease in which acquired patchy depigmentation of skin, hair, and mucous membranes results from loss of melanocytes from involved areas. Previous genetic analyses have focused on vitiligo susceptibility, and have identified a number of genes involved in disease risk. Age of onset of generalized vitiligo also involves a substantial genetic component, but has not previously been studied systematically. In this study, we report a genome-wide association study of vitiligo age of onset in 1,339 generalized vitiligo patients, with replication in an independent cohort of 677 cases. We identified a quantitative trait locus for vitiligo age of onset in the major histocompatibility complex (MHC) class II region, located near c6orf10-BTNL2 (rs7758128; P = 8.14 x 10(-11)), a region that is also associated with generalized vitiligo susceptibility. In contrast, there was no association of vitiligo age of onset with any other MHC or non-MHC loci that are associated with vitiligo susceptibility. These findings highlight the differing roles played by genes involved in vitiligo susceptibility versus vitiligo age of onset, and illustrate that genome-wide analyses can be used to identify genes involved in quantitative aspects of disease natural history, as well as disease susceptibility per se.

引用

页码：1308 / 1312

页数：5

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