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Fine Mapping Major Histocompatibility Complex Associations in Psoriasis and Its Clinical Subtypes
DC Field | Value | Language |
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dc.contributor.author | Okada, Yukinori | - |
dc.contributor.author | Han, Buhm | - |
dc.contributor.author | Tsoi, Lam C. | - |
dc.contributor.author | Stuart, Philip E. | - |
dc.contributor.author | Ellinghaus, Eva | - |
dc.contributor.author | Tejasvi, Trilokraj | - |
dc.contributor.author | Chandran, Vinod | - |
dc.contributor.author | Pellett, Fawnda | - |
dc.contributor.author | Pollock, Remy | - |
dc.contributor.author | Bowcock, Anne M. | - |
dc.contributor.author | Krueger, Gerald G. | - |
dc.contributor.author | Weichenthal, Michael | - |
dc.contributor.author | Voorhees, John J. | - |
dc.contributor.author | Rahman, Proton | - |
dc.contributor.author | Gregersen, Peter K. | - |
dc.contributor.author | Franke, Andre | - |
dc.contributor.author | Nair, Rajan P. | - |
dc.contributor.author | Abecasis, Goncalo R. | - |
dc.contributor.author | Gladman, Dafna D. | - |
dc.contributor.author | Elder, James T. | - |
dc.contributor.author | de Bakker, Paul I. W. | - |
dc.contributor.author | Raychaudhuri, Soumya | - |
dc.date.accessioned | 2023-04-26T05:10:42Z | - |
dc.date.available | 2023-04-26T05:10:42Z | - |
dc.date.created | 2023-04-21 | - |
dc.date.created | 2023-04-21 | - |
dc.date.issued | 2014-08 | - |
dc.identifier.citation | American Journal of Human Genetics, Vol.95 No.2, pp.162-172 | - |
dc.identifier.issn | 0002-9297 | - |
dc.identifier.uri | https://hdl.handle.net/10371/191604 | - |
dc.description.abstract | Psoriasis vulgaris (PsV) risk is strongly associated with variation within the major histocompatibility complex (MHC) region, but its genetic architecture has yet to be fully elucidated. Here, we conducted a large-scale fine-mapping study of PsV risk in the MHC region in 9,247 PsV-affected individuals and 13,589 controls of European descent by imputing class I and II human leukocyte antigen (HLA) genes from SNP genotype data. In addition, we imputed sequence variants for MICA, an MHC HLA-like gene that has been associated with PsV, to evaluate association at that locus as well. We observed that HLA-C*06:02 demonstrated the lowest p value for overall PsV risk (p = 1.7 x 10(-364)). Stepwise analysis revealed multiple HLA-C*06:02-independent risk variants in both class I and class II HLA genes for PsV susceptibility (HLA-C*12:03, HLA-B amino acid positions 67 and 9, HLA-A amino acid position 95, and HLA-DQ alpha 1 amino acid position 53; p < 5.0 x 10(-8)), but no apparent risk conferred by MICA. We further evaluated risk of two major clinical subtypes of PsV, psoriatic arthritis (PsA; n = 3,038) and cutaneous psoriasis (PsC; n = 3,098). We found that risk heterogeneity between PsA and PsC might be driven by HLA-B amino acid position 45 (P-omnibus = 2.2 x 10(-11)), indicating that different genetic factors underlie the overall risk of PsV and the risk of specific PsV subphenotypes. Our study illustrates the value of high-resolution HLA and MICA imputation for fine mapping causal variants in the MHC. | - |
dc.language | 영어 | - |
dc.publisher | University of Chicago Press | - |
dc.title | Fine Mapping Major Histocompatibility Complex Associations in Psoriasis and Its Clinical Subtypes | - |
dc.type | Article | - |
dc.identifier.doi | 10.1016/j.ajhg.2014.07.002 | - |
dc.citation.journaltitle | American Journal of Human Genetics | - |
dc.identifier.wosid | 000340076000003 | - |
dc.identifier.scopusid | 2-s2.0-84905925233 | - |
dc.citation.endpage | 172 | - |
dc.citation.number | 2 | - |
dc.citation.startpage | 162 | - |
dc.citation.volume | 95 | - |
dc.description.isOpenAccess | Y | - |
dc.contributor.affiliatedAuthor | Han, Buhm | - |
dc.type.docType | Article | - |
dc.description.journalClass | 1 | - |
dc.subject.keywordPlus | GENOME-WIDE ASSOCIATION | - |
dc.subject.keywordPlus | SEROPOSITIVE RHEUMATOID-ARTHRITIS | - |
dc.subject.keywordPlus | ANALYSIS IDENTIFIES 3 | - |
dc.subject.keywordPlus | HLA-C | - |
dc.subject.keywordPlus | SUSCEPTIBILITY LOCI | - |
dc.subject.keywordPlus | JOINT MANIFESTATIONS | - |
dc.subject.keywordPlus | DISEASE | - |
dc.subject.keywordPlus | RISK | - |
dc.subject.keywordPlus | VARIANTS | - |
dc.subject.keywordPlus | ALLELES | - |
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