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GWAS Study

Genome-wide analysis identifies a quantitative trait locus in the MHC class II region associated with generalized vitiligo age of onset.

Jin Y, Birlea SA, Fain PR et al.

21326295 PubMed ID
GWAS Study Type
2016 Participants
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Chapter I

Publication Details

Comprehensive information about this research publication

Authors

JY
Jin Y
BS
Birlea SA
FP
Fain PR
GK
Gowan K
RS
Riccardi SL
HP
Holland PJ
BD
Bennett DC
HD
Herbstman DM
WM
Wallace MR
MW
McCormack WT
KE
Kemp EH
GD
Gawkrodger DJ
WA
Weetman AP
PM
Picardo M
LG
Leone G
TA
Taïeb A
JT
Jouary T
EK
Ezzedine K
VG
van Geel N
LJ
Lambert J
OA
Overbeck A
SR
Spritz RA
Chapter II

Abstract

Summary of the research findings

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 × 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.

1,339 European ancestry cases

Chapter III

Study Statistics

Key metrics and study information

2016
Total Participants
GWAS
Study Type
Yes
Replicated
677 European ancestry cases
Replication Participants
European
Ancestry
Chapter IV

Analysis

Comprehensive review of health and genetic findings

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