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. 1996 Sep;48(3):182-6. doi: 10.1111/j.1399-0039.1996.tb02626.x.

Abstract

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Disease Susceptibility
  • Genes, MHC Class I / immunology*
  • Genetic Markers / genetics
  • HLA-C Antigens / genetics
  • Humans
  • Keratins / genetics*
  • Keratins / immunology*
  • Polymorphism, Single-Stranded Conformational
  • Psoriasis / genetics*
  • Psoriasis / immunology*

Substances

  • Genetic Markers
  • HLA-C Antigens
  • Keratins