Association of a CARD9 Gene Haplotype with Behcet's Disease in a Chinese Han Population

Fuzhen Li, Liying Shi, Liping Du, Na Li, Qingfeng Cao, Xin Ma, Tingling Pang, Yizong Liu, Aize Kijlstra, Guangming Wan, Peizeng Yang*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

2 Citations (Web of Science)

Abstract

Purpose: To investigate the association of CARD9 gene polymorphisms with Behcet's disease (BD) and acute anterior uveitis (AAU) in a Chinese Han population. Methods: We performed a case-control association study in 480 patients with BD, 1151 patients with AAU and 1440 healthy controls. Six single nucleotide polymorphisms (SNPs) of CARD9 were genotyped, including rs4077515, rs11145769, rs59902911, rs9411205, rs4073153 and rs1135314. Results: None of the individual SNPs in the CARD9 gene showed an association with either BD or AAU. Haplotype analysis revealed a significant decrease of the frequency of a CARD9 gene haplotype CGCCA (rs4077515, rs11145769, rs59902911, rs9411205, rs4073153) in BD when compared to healthy controls (Pc = 0.012, OR = 0.585, 95%CI = 0.409 similar to 0.837). Haplotype analysis did not show an association between CARD9 and AAU. Conclusions: This study shows that a five-SNP haplotype of the CARD9 gene (CGCCA) may be a protective factor for BD with ocular involvement, but not for AAU.

Original languageEnglish
Pages (from-to)219-227
Number of pages9
JournalOcular Immunology and Inflammation
Volume29
Issue number2
Early online date2 Nov 2019
DOIs
Publication statusPublished - 17 Feb 2021

Keywords

  • Acute anterior uveitis
  • Behcet's disease
  • CARD9
  • haplotype
  • single nucleotide polymorphism
  • ACUTE ANTERIOR UVEITIS
  • GENOME-WIDE ASSOCIATION
  • ANKYLOSING-SPONDYLITIS
  • LINKAGE DISEQUILIBRIUM
  • SUSCEPTIBILITY LOCI
  • CLINICAL-FEATURES
  • SIGNALING PATHWAY
  • RISK LOCI
  • VARIANTS
  • INNATE

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