Identification of a missense variant in LNPEP that confers psoriasis risk

J Invest Dermatol. 2014 Feb;134(2):359-365. doi: 10.1038/jid.2013.317. Epub 2013 Jul 29.

Abstract

Psoriasis is a chronic inflammatory disease with a complex genetic architecture. To further advance gene discovery, we extended our genome-wide association study data set of 1,139 cases and 2,234 controls and replicated two independent cohorts of 7,200 cases and 10,491 controls. We identified the missense variant rs2303138 (p.Ala763Thr) within the LNPEP gene associated with psoriasis (Pcombined=1.83 × 10(-13), odds ratio=1.16) and validated four previously reported genes: IL28RA, NFKBIA, TRAF3IP2, and CARD14 (9.74 × 10(-11)P9.37 × 10(-5)), which confirmed the involvement of the nuclear factor-κB signaling pathway in psoriasis pathogenesis. LNPEP, also named insulin-responsive aminopeptidase, was identified as an angiotensin IV receptor. Protein function prediction suggested that this missense variant of LNPEP was most likely deleterious. Expression analysis showed that LNPEP was significantly downregulated in psoriatic lesions compared with the control skin (P=1.44 × 10(-6)) and uninvolved patient skin (P=2.95 × 10(-4)). Pathway analysis indicated that LNPEP was involved in the renin-angiotensin system, which also has a key role in cardiovascular disease and diabetes. These results provided genetic evidence that psoriasis might share common mechanisms with hypertension and diabetes, which was consistent with clinical observations. Our study identified a genetic susceptibility factor and provided genetic evidence of insight into psoriasis pathogenesis with the involvement of the renin-angiotensin system pathway.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adaptor Proteins, Signal Transducing
  • Adolescent
  • Adult
  • Asian People / genetics
  • Asian People / statistics & numerical data
  • CARD Signaling Adaptor Proteins / genetics
  • Cystinyl Aminopeptidase / genetics*
  • Female
  • Genetic Predisposition to Disease / epidemiology
  • Genetic Predisposition to Disease / genetics
  • Genome-Wide Association Study
  • Guanylate Cyclase / genetics
  • Humans
  • I-kappa B Proteins / genetics
  • Interleukins / genetics
  • Male
  • Membrane Proteins / genetics
  • Mutation, Missense*
  • NF-KappaB Inhibitor alpha
  • Polymorphism, Single Nucleotide
  • Psoriasis / epidemiology*
  • Psoriasis / genetics*
  • Risk Factors
  • Tumor Necrosis Factor Receptor-Associated Peptides and Proteins / genetics
  • White People / genetics
  • White People / statistics & numerical data
  • Young Adult

Substances

  • Adaptor Proteins, Signal Transducing
  • CARD Signaling Adaptor Proteins
  • I-kappa B Proteins
  • interferon-lambda, human
  • Interleukins
  • Membrane Proteins
  • NFKBIA protein, human
  • TRAF3IP2 protein, human
  • Tumor Necrosis Factor Receptor-Associated Peptides and Proteins
  • NF-KappaB Inhibitor alpha
  • Cystinyl Aminopeptidase
  • leucyl-cystinyl aminopeptidase
  • CARD14 protein, human
  • Guanylate Cyclase