Coding haplotype analysis supports HCR as the putative susceptibility gene for psoriasis at the MHC PSORS1 locus

Hum Mol Genet. 2002 Mar 1;11(5):589-97. doi: 10.1093/hmg/11.5.589.

Abstract

PSORS1, near HLA-C, is the major genetic determinant of psoriasis. We present genetic and structural evidence suggesting a major role for the HCR gene at the PSORS1 locus. Genotyping of 419 families from six populations revealed that coding single-nucleotide polymorphisms of HCR formed a conserved allele HCR*WWCC that associated highly significantly with psoriasis and with the HLA-Cw6 allele in all populations. Because of strong linkage disequilibrium between HLA-Cw6 and HCR*WWCC, the two genes could not be genetically distinguished by this sample size. However, the variant HCR allele was predicted to differ in secondary structure from the wild-type protein. HCR protein expression in lesional psoriatic skin differed considerably from that observed in normal skin. These results provide strong evidence for the HCR*WWCC allele as a major genetic determinant for psoriasis, probably by a mechanism impacting on keratinocyte proliferation.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Age of Onset
  • Alleles
  • Amino Acid Sequence
  • Case-Control Studies
  • Chromosome Mapping
  • Exons
  • Female
  • Genetic Predisposition to Disease / genetics
  • Genetic Variation
  • Genotype
  • Glycoproteins / genetics
  • HLA-C Antigens / genetics
  • Haplotypes
  • Humans
  • Intracellular Signaling Peptides and Proteins
  • Linkage Disequilibrium
  • Male
  • Pedigree
  • Polymorphism, Genetic
  • Proteins / genetics*
  • Psoriasis / genetics*
  • Psoriasis / immunology
  • Psoriasis / pathology

Substances

  • CCHCR1 protein, human
  • Glycoproteins
  • HLA-C Antigens
  • Intracellular Signaling Peptides and Proteins
  • Proteins

Grants and funding