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Updated: Apr 30, 2026

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
A single nucleotide polymorphism -35 kb T>C (rs9264942) is strongly associated with psoriasis vulgaris depending on
Edyta Majorczyk1, Lukasz Matusiak2, Izabela Nowak3
1Laboratory of Immunogenetics and Tissue Immunology, Ludwik Hirszfeld Institute of Immunology and Experimental Therapy, Polish Academy of Sciences, ul. Rudolfa Weigla 12, 53-114 Wrocław, Poland; Chair of Biochemistry and Physiology, Institute of Physiotherapy, Faculty of Physical Education and Physiotherapy, Opole University of Technology, ul. Prószkowska 76, 45-758 Opole, Poland.
Abstract:
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 × 10(-16)) and genotypes (5.67 × 10(-15)). However, rs9264942C allele was predisposing to PsV 3-fold weaker than HLA-Cw(∗)06 (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.
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