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Genetic polymorphisms in the keratin-like S gene within the human major histocompatibility complex and association analysis on the susceptibility to psoriasis vulgaris


Genetic polymorphisms in the keratin-like S gene within the human major histocompatibility complex and association analysis on the susceptibility to psoriasis vulgaris



Tissue Antigens 48(3): 182-186



ISSN/ISBN: 0001-2815

PMID: 8896176

DOI: 10.1111/j.1399-0039.1996.tb02626.x

Psoriasis vulgaris is associated with the HLA-Cw6 and Cw7 antigens. However, it has not yet been clarified if the HLA-Cw6 and Cw7 genes themselves are the susceptible gene related to this disease or if it is some other non-HLA gene in a linkage disequilibrium with these HLA-C alleles. The S gene, recently identified in the HLA class I region 160 kb telomeric of HLA-C, encodes a keratin-like protein and is expressed specifically in the granular layer of the epidermis. Therefore, it is tempting to speculate that the S gene is one of the strong candidate genes responsible for the pathogenesis of psoriasis vulgaris. Direct sequencing of the first and second exon of the S gene after polymerase chain reaction (PCR) amplification has allowed the identification of two diallelic polymorphic sites in exon I and seven diallelic polymorphic sites in exon 2, three among which result in amino acid exchanges, a Ser-Phe substitution at amino acid position 186, a Gly-Val substitution at position 393 and a Ser-Leu substitution at position 394. No significant difference in the dimorphic distributions of the S gene was observed between the patients with psoriasis vulgaris and healthy controls, suggesting that the susceptible gene for psoriasis is not the S gene itself.

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Accession: 008728725

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