4.2 Article

A single nucleotide polymorphism-35 kb T > C (rs9264942) is strongly associated with psoriasis vulgaris depending on HLA-Cw*06

Journal

HUMAN IMMUNOLOGY
Volume 75, Issue 6, Pages 504-507

Publisher

ELSEVIER SCIENCE INC
DOI: 10.1016/j.humimm.2014.04.003

Keywords

Psoriasis vulgaris; HLA-C; rs9264942; Susceptibility; Genetics

Categories

Funding

  1. Ludwik Hirszfeld Institute of Immunology and Experimental Therapy [14/2013]

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HLA class I molecules play a role both in viral infection control and in autoimmune diseases development. rs9264942T > C polymorphism in HLA-C gene was found to impact on HLA-C surface expression level and to be associated with HIV-1 control. It was found that these HLA alleles which protect against AIDS are associated with autoimmune disease e.g. psoriasis vulgaris (PsV). Whether rs9264942 SNP is associated with PsV was investigated here. rs9264942T > C was genotyped in 292 PsV patients, and 254 controls using TaqMan Genotyping Assay. PsV patients differed from controls in frequencies of rs9264942T > C alleles (p = 3.62 x 10(-16)) and genotypes (5.67 x 10(-15)). However, rs9264942C allele was predisposing to PsV 3-fold weaker than HLA-Cw*O6 (OR = 5.04 vs. OR = 15.61, respectively). In addition, this SNP was described earlier to be in strong linkage disequilibrium (LD) with another SNP, rs67384697 ins/del, which by affecting a microRNA binding is responsible for regulating HLA-C expression. However, typing for is cheaper and simpler than that for rs67384697, therefore we think it may substitute for it to some extent. (c) 2014 American Society for Histocompatibility and Immunogenetics. Published by Elsevier Inc. All rights reserved.

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