Identification of a psoriasis susceptibility candidate gene by linkage disequilibrium mapping with a localized single nucleotide polymorphism map

Duncan Hewett, Lena Samuelsson, Joanne Polding, Fredrik Enlund, Devi Smart, Kathryn Cantone, Chee Gee See, Sapna Chadha, Annica Inerot, Charlotta Enerback, Doug Montgomery, Chris Christodolou, Phil Robinson, Paul Matthews, Mary Plumpton, Colin Dykes, Jan Wahlstrom, Gunnar Swanbeck, Tommy Martinsson, Allen RosesJohn Riley, Ian Purvis

Research output: Contribution to journalArticlepeer-review

96 Citations (Scopus)


Psoriasis is a chronic inflammatory disease of the skin with both genetic and environmental risk factors. Here we describe the creation of a single-nucleotide polymorphism (SNP) map spanning 900-1200 kb of chromosome 3q21, which had been previously recognized as containing a psoriasis susceptibility locus, PSORS5. We genotyped 644 individuals, from 195 Swedish psoriatic families, for 19 polymorphisms. Linkage disequilibrium (LD) between marker and disease was assessed using the transmission/disequilibrium test (TDT). In the TDT analysis, alleles of three of these SNPs showed significant association with disease (P < 0.05). A 160-kb interval encompassing these three SNPs was sequenced, and a coding sequence consisting of 13 exons was identified. The predicted protein shares 30-40% homology with the family of cation/chloride cotransporters. A five-marker haplotype spanning the 3′ half of this gene is associated with psoriasis to a P value of 3.8 < 10-5. We have called this gene SLC12A8, coding for a member of the solute carrier family 12 proteins. It belongs to a class of genes that were previously unrecognized as playing a role in psoriasis pathogenesis.

Original languageEnglish
Pages (from-to)305-314
Number of pages10
Issue number3
Publication statusPublished or Issued - 2002


  • Association
  • Chromosome 3
  • Linkage disequilibrium
  • Psoriasis
  • SLC12A8
  • Solute carrier

ASJC Scopus subject areas

  • Genetics

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