Sequencing-based approach identified three new susceptibility loci for psoriasis

Nat Commun. 2014 Jul 9;5:4331. doi: 10.1038/ncomms5331.


In a previous large-scale exome sequencing analysis for psoriasis, we discovered seven common and low-frequency missense variants within six genes with genome-wide significance. Here we describe an in-depth analysis of noncoding variants based on sequencing data (10,727 cases and 10,582 controls) with replication in an independent cohort of Han Chinese individuals consisting of 4,480 cases and 6,521 controls to identify additional psoriasis susceptibility loci. We confirmed four known psoriasis susceptibility loci (IL12B, IFIH1, ERAP1 and RNF114; 2.30 × 10(-20)≤P≤2.41 × 10(-7)) and identified three new susceptibility loci: 4q24 (NFKB1) at rs1020760 (P=2.19 × 10(-8)), 12p13.3 (CD27-LAG3) at rs758739 (P=4.08 × 10(-8)) and 17q12 (IKZF3) at rs10852936 (P=1.96 × 10(-8)). Two suggestive loci, 3p21.31 and 17q25, are also identified with P<1.00 × 10(-6). The results of this study increase the number of confirmed psoriasis risk loci and provide novel insight into the pathogenesis of psoriasis.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Antigens, CD / genetics*
  • Asian Continental Ancestry Group / genetics*
  • Case-Control Studies
  • China
  • Female
  • Genetic Predisposition to Disease*
  • Genome-Wide Association Study
  • Humans
  • Ikaros Transcription Factor / genetics*
  • Male
  • Middle Aged
  • NF-kappa B p50 Subunit / genetics*
  • Polymorphism, Single Nucleotide
  • Psoriasis / genetics*
  • Tumor Necrosis Factor Receptor Superfamily, Member 7 / genetics*
  • Young Adult


  • Antigens, CD
  • CD223 antigen
  • IKZF3 protein, human
  • NF-kappa B p50 Subunit
  • NFKB1 protein, human
  • Tumor Necrosis Factor Receptor Superfamily, Member 7
  • Ikaros Transcription Factor

Associated data

  • SRA/SRA168458