Associations of single nucleotide polymorphisms of PTPN22 and Ctla4 genes with the risk of allergic rhinitis in a Chinese Han population

Hum Immunol. 2017 Feb;78(2):227-231. doi: 10.1016/j.humimm.2016.11.008. Epub 2016 Nov 22.

Abstract

Background: Allergic rhinitis (AR) is an inflammatory disorder of the upper airway. Protein tyrosine phosphatase non-receptor 22 encoded by PTPN22 gene and cytotoxic T-lymphocyte associated 4 encoded by Ctla4 gene are associated with autoimmune diseases.

Purpose: This study was performed to evaluate the potential association of PTPN22 and Ctla4 single nucleotide polymorphisms (SNPs) with AR in a Chinese Han population.

Methods: A case-control study was performed in 783 Chinese AR patients and 811 healthy controls. Three SNPs in PTPN22 gene (rs2488457, rs1310182, and rs3789604) and 6 SNPs in Ctla4 gene (rs3087243, rs231779, rs11571302, rs11571315, rs231725, and rs35219727) were detected using a polymerase chain reaction-restriction fragment length polymorphism assay (PCR-RFLP).

Results: For PTPN22 gene, a significantly decreased prevalence of the rs2488457 CC genotype and C allele was found in AR patients. The frequencies of the rs1310182 CC genotype, CT genotype, and C allele were significantly associated with the risk of AR. For Ctla4 gene, a significantly increased prevalence of the rs11571302 AA genotype, CA genotype and A allele was noted in AR patients.

Conclusion: SNPs of PTPN22 and Ctla4 genes are significantly associated with the risk of AR in the Chinese Han population.

Keywords: Allergic rhinitis; CTLA-4; PTPN22; SNP.

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • CTLA-4 Antigen / genetics*
  • Child
  • China
  • Female
  • Gene Frequency
  • Genetic Association Studies
  • Genetic Predisposition to Disease
  • Genotype
  • Humans
  • Male
  • Middle Aged
  • Polymorphism, Genetic
  • Protein Tyrosine Phosphatase, Non-Receptor Type 22 / genetics*
  • Rhinitis, Allergic / genetics*
  • Risk
  • Young Adult

Substances

  • CTLA-4 Antigen
  • PTPN22 protein, human
  • Protein Tyrosine Phosphatase, Non-Receptor Type 22