Deletion of the late cornified envelope LCE3B and LCE3C genes as a susceptibility factor for psoriasis

Nat Genet. 2009 Feb;41(2):211-5. doi: 10.1038/ng.313. Epub 2009 Jan 25.

Abstract

Psoriasis is a common inflammatory skin disease with a prevalence of 2-3% in individuals of European ancestry. In a genome-wide search for copy number variants (CNV) using a sample pooling approach, we have identified a deletion comprising LCE3B and LCE3C, members of the late cornified envelope (LCE) gene cluster. The absence of LCE3B and LCE3C (LCE3C_LCE3B-del) is significantly associated (P = 1.38E-08) with risk of psoriasis in 2,831 samples from Spain, The Netherlands, Italy and the United States, and in a family-based study (P = 5.4E-04). LCE3C_LCE3B-del is tagged by rs4112788 (r(2) = 0.93), which is also strongly associated with psoriasis (P < 6.6E-09). LCE3C_LCE3B-del shows epistatic effects with the HLA-Cw6 allele on the development of psoriasis in Dutch samples and multiplicative effects in the other samples. LCE expression can be induced in normal epidermis by skin barrier disruption and is strongly expressed in psoriatic lesions, suggesting that compromised skin barrier function has a role in psoriasis susceptibility.

Publication types

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

MeSH terms

  • Case-Control Studies
  • Cornified Envelope Proline-Rich Proteins / genetics*
  • Epistasis, Genetic / physiology
  • Europe
  • Family
  • Gene Deletion*
  • Genetic Predisposition to Disease*
  • Genetics, Population
  • Genome-Wide Association Study
  • Genotype
  • HLA-C Antigens / genetics
  • Humans
  • Linkage Disequilibrium
  • Polymorphism, Single Nucleotide
  • Proteins / genetics
  • Psoriasis / genetics*
  • United States

Substances

  • Cornified Envelope Proline-Rich Proteins
  • HLA-C Antigens
  • HLA-C*06 antigen
  • LCE3C protein, human
  • PSORS1C1 protein, human
  • Proteins