Corneodesmosin gene polymorphism demonstrates strong linkage disequilibrium with HLA and association with psoriasis vulgaris

Tissue Antigens. 1999 Nov;54(5):439-49. doi: 10.1034/j.1399-0039.1999.540501.x.


Corneodesmosin (CD) is thought to play a key role in corneocyte cohesion, and its proteolysis appears to be a major event in the process of desquamation. Recently it was shown that CD is encoded by the S-gene, which is located approximately 160 kb telomeric of HLA-C. In the present study, the role of CD in the genetics of psoriasis vulgaris was studied in greater detail. The second exon of the CD gene was sequenced in 86 HLA-typed individuals from 13 psoriasis multiplex families. A total of 11 silent dimorphisms and 7 variants resulting in amino acid substitutions were found. Pedigree analysis showed that these variants could be grouped into 7 alleles, encoding 6 different amino acid sequences. These alleles are in strong linkage disequilibrium with HLA-B and -C, indicating that the polymorphism of the CD gene is ancient and well conserved rather than sporadic. One allele at the CD locus, designated CD2, displayed strong linkage disequilibrium with HLA-Cw6, the HLA allele most prominently associated with psoriasis. CD2 demonstrated a greater relative risk than Cw6 (3.4 vs. 2.5, not significant) and higher significant transmission disequilibrium with psoriasis than any of the investigated HLA-alleles. Due to its biologic function, cellular location and disease association, the CD gene appears to be an excellent candidate gene for PSORS1, the HLA-linked determinant of psoriasis vulgaris.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, Non-P.H.S.
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Alleles
  • Cohort Studies
  • Exons
  • Family Health
  • Genetic Predisposition to Disease
  • Glycoproteins / genetics*
  • HLA Antigens / genetics*
  • Haplotypes
  • Histocompatibility Testing
  • Humans
  • Intercellular Signaling Peptides and Proteins
  • Linkage Disequilibrium*
  • Molecular Sequence Data
  • Polymorphism, Genetic*
  • Psoriasis / genetics*
  • Psoriasis / immunology


  • CDSN protein, human
  • Glycoproteins
  • HLA Antigens
  • Intercellular Signaling Peptides and Proteins

Associated data

  • GENBANK/AJ238461
  • GENBANK/AJ238462
  • GENBANK/AJ238463
  • GENBANK/AJ238464
  • GENBANK/AJ238465
  • GENBANK/AJ238466
  • GENBANK/AJ238467