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Coding haplotype analysis supports HCR as the putative susceptibility gene for psoriasis at the MHC PSORS1 locus

Asumalahti, Kati, Veal, Colin, Laitinen, Tarja, Suomela, Sari, Allen, Michael, Elomaa, Outi, Moser, Michael, De Cid, Rafael, Ripatti, Samuli, Vorechovsky, Igor, Marcusson, Jan A., Nakagawa, Hidemi, Lazaro, Conxi, Estivill, Xavier, Capon, Francesca, Novelli, Giuseppe, Saarialho-Kere, Ulpu, Barker, Jonathan, Trembath, Richard and Kere, Juha (2002) Coding haplotype analysis supports HCR as the putative susceptibility gene for psoriasis at the MHC PSORS1 locus Human Molecular Genetics, 11, (5), pp. 589-597. (doi:10.1093/hmg/11.5.589).

Record type: Article

Abstract

PSORS1, near HLA-C, is the major genetic determinant of psoriasis. We present genetic and structural evidence suggesting a major role for the HCR gene at the PSORS1 locus. Genotyping of 419 families from six populations revealed that coding single-nucleotide polymorphisms of HCR formed a conserved allele HCR*WWCC that associated highly significantly with psoriasis and with the HLA-Cw6 allele in all populations. Because of strong linkage disequilibrium between HLA-Cw6 and HCR*WWCC, the two genes could not be genetically distinguished by this sample size. However, the variant HCR allele was predicted to differ in secondary structure from the wild-type protein. HCR protein expression in lesional psoriatic skin differed considerably from that observed in normal skin. These results provide strong evidence for the HCR*WWCC allele as a major genetic determinant for psoriasis, probably by a mechanism impacting on keratinocyte proliferation.

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Published date: 2002

Identifiers

Local EPrints ID: 24615
URI: http://eprints.soton.ac.uk/id/eprint/24615
PURE UUID: f74411ca-8ede-4cc0-a637-bced6c560124

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Date deposited: 03 Apr 2006
Last modified: 17 Jul 2017 16:13

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Contributors

Author: Kati Asumalahti
Author: Colin Veal
Author: Tarja Laitinen
Author: Sari Suomela
Author: Michael Allen
Author: Outi Elomaa
Author: Michael Moser
Author: Rafael De Cid
Author: Samuli Ripatti
Author: Jan A. Marcusson
Author: Hidemi Nakagawa
Author: Conxi Lazaro
Author: Xavier Estivill
Author: Francesca Capon
Author: Giuseppe Novelli
Author: Ulpu Saarialho-Kere
Author: Jonathan Barker
Author: Richard Trembath
Author: Juha Kere

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