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Early-onset autoimmune vitiligo associated with an enhancer variant haplotype that upregulates class II HLA expression
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Early-onset autoimmune vitiligo associated with an enhancer variant haplotype that upregulates class II HLA expression
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Journal Article
Early-onset autoimmune vitiligo associated with an enhancer variant haplotype that upregulates class II HLA expression
2019
Overview
Vitiligo is an autoimmune disease in which melanocyte destruction causes skin depigmentation, with 49 loci known from previous GWAS. Aiming to define vitiligo subtypes, we discovered that age-of-onset is bimodal; one-third of cases have early onset (mean 10.3 years) and two-thirds later onset (mean 34.0 years). In the early-onset subgroup we found novel association with MHC class II region indel rs145954018, and independent association with the principal MHC class II locus from previous GWAS, represented by rs9271597; greatest association was with rs145954018del-rs9271597A haplotype (
P
= 2.40 × 10
−86
, OR = 8.10). Both rs145954018 and rs9271597 are located within lymphoid-specific enhancers, and the rs145954018del-rs9271597A haplotype is specifically associated with increased expression of
HLA-DQB1
mRNA and HLA-DQ protein by monocytes and dendritic cells. Thus, for vitiligo, MHC regulatory variation confers extreme risk, more important than
HLA
coding variation. MHC regulatory variation may represent a significant component of genetic risk for other autoimmune diseases.
GWAS have led to the identification of 49 genetic loci associated with vitiligo. Here, the authors observe a bimodal distribution of age-of-onset and find a novel genetic locus specifically associated with early-onset vitiligo, located in a regulatory element in the MHC class II region.
Publisher
Nature Publishing Group UK,Nature Publishing Group,Nature Portfolio
Subject
/ 45/43
/ 45/77
/ 45/90
/ 45/91
/ 82/80
/ Adult
/ Age
/ Aged
/ Autoimmune Diseases - genetics
/ Autoimmune Diseases - immunology
/ Child
/ Female
/ Gene Expression Regulation - genetics
/ Genes, MHC Class II - genetics
/ Genes, MHC Class II - immunology
/ Genetic Predisposition to Disease
/ Genotype
/ Histocompatibility antigen HLA
/ HLA-DQ Antigens - metabolism
/ HLA-DQ beta-Chains - metabolism
/ Humanities and Social Sciences
/ Humans
/ Infant
/ Loci
/ Major histocompatibility complex
/ Male
/ mRNA
/ Proteins
/ Science
/ Vitiligo
