Weidinger, Stephan and Willis-Owen, Saffron A. G. and Kamatani, Yoichiro and Baurecht, Hansjoerg and Morar, Nilesh and Liang, Liming and Edser, Pauline and Street, Teresa and Rodriguez, Elke and O'Regan, Grainne M. and Beattie, Paula and Foelster-Holst, Regina and Franke, Andre and Novak, Natalija and Fahy, Caoimhe M. and Winge, Marten C. G. and Kabesch, Michael and Illig, Thomas and Heath, Simon and Soderhall, Cilla and Melen, Erik and Pershagen, Goran and Kere, Juha and Bradley, Maria and Lieden, Agne and Nordenskjold, Magnus and Harper, John I. and Mclean, W. H. Irwin and Brown, Sara J. and Cookson, William O. C. and Lathrop, G. Mark and Irvine, Alan D. and Moffatt, Miriam F. (2013) A genome-wide association study of atopic dermatitis identifies loci with overlapping effects on asthma and psoriasis. HUMAN MOLECULAR GENETICS, 22 (23). pp. 4841-4856. ISSN 0964-6906, 1460-2083
Full text not available from this repository. (Request a copy)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.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | CLASSICAL HLA ALLELES; SUSCEPTIBILITY LOCI; FILAGGRIN MUTATIONS; REVEALS ASSOCIATION; GENETIC-VARIATION; COMMON VARIANTS; LARGE-SCALE; HAY-FEVER; RISK; DISEASE; |
| Subjects: | 600 Technology > 610 Medical sciences Medicine |
| Divisions: | Medicine > Lehrstuhl für Kinder- und Jugendmedizin |
| Depositing User: | Dr. Gernot Deinzer |
| Date Deposited: | 25 Mar 2020 05:55 |
| Last Modified: | 25 Mar 2020 05:55 |
| URI: | https://pred.uni-regensburg.de/id/eprint/15626 |
Actions (login required)
 |
View Item |
