A single nucleotide polymorphism -35 kb T>C (rs9264942) is strongly associated with psoriasis vulgaris depending on HLA-Cw(∗)06.
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.
Laboratory 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. Electronic address: e.majorczyk@po.opole.pl.
Edyta
E
Majorczyk
Department of Dermatology, Venereology and Allergology, Wroclaw Medical University, ul. T. Chałubińskiego 1, 50-368 Wrocław, Poland.
Lukasz
L
Matusiak
Laboratory 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.
Izabela
I
Nowak
Laboratory 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.
Aneta
A
Pietkiewicz-Sworowska
Laboratory 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.
Wioleta
W
Luszczek
Department of Dermatology, Venereology and Allergology, Wroclaw Medical University, ul. T. Chałubińskiego 1, 50-368 Wrocław, Poland.
Jacek C
JC
Szepietowski
Laboratory 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. Electronic address: pkusnier@iitd.pan.wroc.pl.
Piotr
P
Kuśnierczyk
D020121:5' Untranslated Regions; D000293:Adolescent; D000328:Adult; D000483:Alleles; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D005260:Female; D005787:Gene Frequency; D056426:Genetic Loci; D020022:Genetic Predisposition to Disease; D015236:HLA-C Antigens / Q000235:genetics* / Q000276:immunology; D006239:Haplotypes; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D015810:Linkage Disequilibrium; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D011565:Psoriasis / Q000235:genetics* / Q000276:immunology / Q000473:pathology
D020121:5' Untranslated Regions; D015236:HLA-C Antigens; C528994:HLA-C*06 antigen
Genetics; HLA-C; Psoriasis vulgaris; Susceptibility; rs9264942