Investigation of 20 non-HLA (human leucocyte antigen) psoriasis susceptibility loci in Chinese patients with psoriatic arthritis and psoriasis vulgaris

Br J Dermatol. 2013 May;168(5):1060-5. doi: 10.1111/bjd.12142.

Abstract

Background: Recently, a number of non-HLA (human leucocyte antigen) psoriasis genetic susceptibility loci have been identified through genome-wide association studies, but data on their association with psoriatic arthritis (PsA) are lacking.

Objectives: To investigate recently identified psoriasis susceptibility loci in a cohort of Chinese patients with PsA, psoriasis vulgaris (PsV) and healthy controls.

Methods: Twenty single-nucleotide polymorphisms (SNPs) from 20 loci were selected for genotyping in 379 patients with PsA, 595 patients with PsV and 1181 healthy controls using the MassARRAY platform (Sequenom, San Diego, CA, U.S.A.). Data handling, quality control and association were performed using PLINK software, v. 1.07. The Cochran-Armitage trend test was used to test the genotype-phenotype association.

Results: PsA showed a significant association with markers at TNIP1 (rs17728338, P = 2.20 × 10(-8)), IL28RA (rs4649203, P = 5.04 × 10(-6)), IL12B (rs2082412, P = 3.82 × 10(-5)), ERAP1 (rs27524, P = 1.25 × 10(-3)), PTTG1 (rs2431697, P = 1.22 × 10(-3)) and GJB2 (rs3751385, P = 1.48 × 10(-3)) when compared with the control group. In PsV a significant association was found for IL28RA (rs4649203, P = 9.53 × 10(-7)), TNIP1 (rs17728338, P = 1.21 × 10(-4)) and ERAP1 (rs27524, P = 1.17 × 10(-3)). The allele frequencies were not statistically different between PsA and PsV except for SNPs at IL12B and ZNF816A with a nominal P-value of 0.04 and 0·01, respectively.

Conclusions: This study provides evidence for the involvement of ERAP1, IL28RA, GJB2 and PTTG1 loci in PsA susceptibility and confirmed the previously reported association with PsA and PsV. These results support the hypothesis that genetic aetiology of psoriasis is the same in both PsA and PsV and also support the higher genetic component of PsA than PsV.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aminopeptidases / genetics
  • Aminopeptidases / immunology
  • Arthritis, Psoriatic / genetics*
  • Arthritis, Psoriatic / immunology
  • Asian People / genetics
  • Case-Control Studies
  • Cohort Studies
  • Connexin 26
  • Connexins / genetics
  • Connexins / immunology
  • Female
  • Genetic Loci / genetics
  • Genetic Predisposition to Disease
  • Genome-Wide Association Study
  • HLA Antigens / genetics*
  • HLA Antigens / immunology
  • Humans
  • Interleukins / genetics
  • Interleukins / immunology
  • Male
  • Middle Aged
  • Minor Histocompatibility Antigens
  • Neoplasm Proteins / genetics
  • Neoplasm Proteins / immunology
  • Polymorphism, Single Nucleotide*
  • Psoriasis / genetics
  • Psoriasis / immunology
  • Securin

Substances

  • Connexins
  • GJB2 protein, human
  • HLA Antigens
  • interferon-lambda, human
  • Interleukins
  • Minor Histocompatibility Antigens
  • Neoplasm Proteins
  • Securin
  • pituitary tumor-transforming protein 1, human
  • Connexin 26
  • Aminopeptidases
  • ERAP1 protein, human