A genome-wide association study of atopic dermatitis identifies loci with overlapping effects on asthma and psoriasis
Author(s)
Type
Journal Article
Abstract
Atopic dermatitis (AD) is the most common dermatological disease of childhood. Many children with AD have asthma and AD shares regions of genetic linkage with psoriasis, another chronic inflammatory skin disease. We present here a genome-wide association study (GWAS) of childhood-onset AD in 1563 European cases with known asthma status and 4054 European controls. Using Illumina genotyping followed by imputation, we generated 268 034 consensus genotypes and in excess of 2 million single nucleotide polymorphisms (SNPs) for analysis. Association signals were assessed for replication in a second panel of 2286 European cases and 3160 European controls. Four loci achieved genome-wide significance for AD and replicated consistently across all cohorts. These included the epidermal differentiation complex (EDC) on chromosome 1, the genomic region proximal to LRRC32 on chromosome 11, the RAD50/IL13 locus on chromosome 5 and the major histocompatibility complex (MHC) on chromosome 6; reflecting action of classical HLA alleles. We observed variation in the contribution towards co-morbid asthma for these regions of association. We further explored the genetic relationship between AD, asthma and psoriasis by examining previously identified susceptibility SNPs for these diseases. We found considerable overlap between AD and psoriasis together with variable coincidence between allergic rhinitis (AR) and asthma. Our results indicate that the pathogenesis of AD incorporates immune and epidermal barrier defects with combinations of specific and overlapping effects at individual loci.
Date Issued
2013-12-01
Date Acceptance
2013-06-28
Citation
Human Molecular Genetics, 2013, 22 (23), pp.4841-4856
ISSN
0964-6906
Publisher
Oxford University Press (OUP)
Start Page
4841
End Page
4856
Journal / Book Title
Human Molecular Genetics
Volume
22
Issue
23
Copyright Statement
© The Author 2013. Published by Oxford University Press.
This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/3.0/), which permits unrestricted reuse, distribution, and reproduction in any medium, provided the original work is properly cited.
This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/3.0/), which permits unrestricted reuse, distribution, and reproduction in any medium, provided the original work is properly cited.
Sponsor
Medical Research Council (MRC)
National Institute for Health Research
Medical Research Council (MRC)
Wellcome Trust
Identifier
http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000326973000016&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=1ba7043ffcc86c417c072aa74d649202
Grant Number
G1000758
NF-SI-0512-10126
G1000758
096964/Z/11/Z
Subjects
Science & Technology
Life Sciences & Biomedicine
Biochemistry & Molecular Biology
Genetics & Heredity
CLASSICAL HLA ALLELES
SUSCEPTIBILITY LOCI
FILAGGRIN MUTATIONS
REVEALS ASSOCIATION
GENETIC-VARIATION
COMMON VARIANTS
LARGE-SCALE
HAY-FEVER
RISK
DISEASE
Publication Status
Published
Date Publish Online
2013-07-25