CD40 gene polymorphisms confer risk of Behçet's disease but not of Vogt-Koyanagi-Harada syndrome in a Han Chinese population

Feilan Chen, Shengping Hou, Zhengxuan Jiang, Yuanyuan Chen, Aize Kijlstra, James (Jim) Rosenbaum, Peizeng Yang

Research output: Contribution to journalArticle

24 Citations (Scopus)

Abstract

Objectives. Recent genetic surveys including a genome-wide association study have identified CD40 as a susceptibility gene for several autoimmune diseases. This study was designed to investigate the association of CD40 gene polymorphisms with Behçet's disease (BD) and Vogt-Koyanagi-Harada (VKH) syndrome in a Han Chinese population. Methods. Two single nucleotide polymorphisms (SNPs), rs4810485 and rs1883832, were genotyped using polymerase chain reaction-restriction fragment length polymorphism in 373 BD patients, 519 VKH patients and 402 controls. A binary logistic regression analysis was applied to assess the influence of gender on the association of CD40 polymorphisms with BD. Results. Our results showed significantly increased frequencies of the homozygous rs4810485 TT and rs1883832 TT in BD patients as compared with the controls [Bonferroni-corrected P-value for gender adjustment (P a c) = 0.006, odds ratio (OR) = 1.98, 95% confidence interval (CI) 1.38, 2.83; Pa c = 0.012, OR= 1.73, 95% CI 1.22, 2.46, respectively]. A markedly decreased frequency of the heterozygous rs4810485 GT was observed in BD patients as compared with the controls (P a c = 0.042, OR= 0.68, 95% CI 0.51, 0.90). The genotype and allele frequencies of rs4810485 and rs1883832 were not different between VKH patients and controls. Stratification analysis did not find any association between the tested SNPs and extra-ocular manifestations of both diseases. Conclusions. The results suggest that TT genotypes of rs4810485 and rs1883832 may be predisposing genotypes for BD, and that the rs4810485 GT genotype may be a protective genotype for BD. The two tested CD40 gene polymorphisms are not associated with VKH syndrome in the investigated Han Chinese population.

Original languageEnglish (US)
Article numberker345
Pages (from-to)47-51
Number of pages5
JournalRheumatology
Volume51
Issue number1
DOIs
StatePublished - Jan 2012

Fingerprint

Uveomeningoencephalitic Syndrome
Genotype
Population
Genes
Odds Ratio
Confidence Intervals
Single Nucleotide Polymorphism
Eye Manifestations
Genome-Wide Association Study
Gene Frequency
Restriction Fragment Length Polymorphisms
Autoimmune Diseases
Logistic Models
Regression Analysis
Polymerase Chain Reaction

Keywords

  • Association
  • Behçet's disease
  • Cd40
  • Polymorphism
  • Vogt-Koyanagi-Harada (VKH) syndrome

ASJC Scopus subject areas

  • Rheumatology
  • Pharmacology (medical)

Cite this

CD40 gene polymorphisms confer risk of Behçet's disease but not of Vogt-Koyanagi-Harada syndrome in a Han Chinese population. / Chen, Feilan; Hou, Shengping; Jiang, Zhengxuan; Chen, Yuanyuan; Kijlstra, Aize; Rosenbaum, James (Jim); Yang, Peizeng.

In: Rheumatology, Vol. 51, No. 1, ker345, 01.2012, p. 47-51.

Research output: Contribution to journalArticle

Chen, Feilan ; Hou, Shengping ; Jiang, Zhengxuan ; Chen, Yuanyuan ; Kijlstra, Aize ; Rosenbaum, James (Jim) ; Yang, Peizeng. / CD40 gene polymorphisms confer risk of Behçet's disease but not of Vogt-Koyanagi-Harada syndrome in a Han Chinese population. In: Rheumatology. 2012 ; Vol. 51, No. 1. pp. 47-51.
@article{d4cc5831eb624792a0690c5601f2157c,
title = "CD40 gene polymorphisms confer risk of Beh{\cc}et's disease but not of Vogt-Koyanagi-Harada syndrome in a Han Chinese population",
abstract = "Objectives. Recent genetic surveys including a genome-wide association study have identified CD40 as a susceptibility gene for several autoimmune diseases. This study was designed to investigate the association of CD40 gene polymorphisms with Beh{\cc}et's disease (BD) and Vogt-Koyanagi-Harada (VKH) syndrome in a Han Chinese population. Methods. Two single nucleotide polymorphisms (SNPs), rs4810485 and rs1883832, were genotyped using polymerase chain reaction-restriction fragment length polymorphism in 373 BD patients, 519 VKH patients and 402 controls. A binary logistic regression analysis was applied to assess the influence of gender on the association of CD40 polymorphisms with BD. Results. Our results showed significantly increased frequencies of the homozygous rs4810485 TT and rs1883832 TT in BD patients as compared with the controls [Bonferroni-corrected P-value for gender adjustment (P a c) = 0.006, odds ratio (OR) = 1.98, 95{\%} confidence interval (CI) 1.38, 2.83; Pa c = 0.012, OR= 1.73, 95{\%} CI 1.22, 2.46, respectively]. A markedly decreased frequency of the heterozygous rs4810485 GT was observed in BD patients as compared with the controls (P a c = 0.042, OR= 0.68, 95{\%} CI 0.51, 0.90). The genotype and allele frequencies of rs4810485 and rs1883832 were not different between VKH patients and controls. Stratification analysis did not find any association between the tested SNPs and extra-ocular manifestations of both diseases. Conclusions. The results suggest that TT genotypes of rs4810485 and rs1883832 may be predisposing genotypes for BD, and that the rs4810485 GT genotype may be a protective genotype for BD. The two tested CD40 gene polymorphisms are not associated with VKH syndrome in the investigated Han Chinese population.",
keywords = "Association, Beh{\cc}et's disease, Cd40, Polymorphism, Vogt-Koyanagi-Harada (VKH) syndrome",
author = "Feilan Chen and Shengping Hou and Zhengxuan Jiang and Yuanyuan Chen and Aize Kijlstra and Rosenbaum, {James (Jim)} and Peizeng Yang",
year = "2012",
month = "1",
doi = "10.1093/rheumatology/ker345",
language = "English (US)",
volume = "51",
pages = "47--51",
journal = "Rheumatology (United Kingdom)",
issn = "1462-0324",
publisher = "Oxford University Press",
number = "1",

}

TY - JOUR

T1 - CD40 gene polymorphisms confer risk of Behçet's disease but not of Vogt-Koyanagi-Harada syndrome in a Han Chinese population

AU - Chen, Feilan

AU - Hou, Shengping

AU - Jiang, Zhengxuan

AU - Chen, Yuanyuan

AU - Kijlstra, Aize

AU - Rosenbaum, James (Jim)

AU - Yang, Peizeng

PY - 2012/1

Y1 - 2012/1

N2 - Objectives. Recent genetic surveys including a genome-wide association study have identified CD40 as a susceptibility gene for several autoimmune diseases. This study was designed to investigate the association of CD40 gene polymorphisms with Behçet's disease (BD) and Vogt-Koyanagi-Harada (VKH) syndrome in a Han Chinese population. Methods. Two single nucleotide polymorphisms (SNPs), rs4810485 and rs1883832, were genotyped using polymerase chain reaction-restriction fragment length polymorphism in 373 BD patients, 519 VKH patients and 402 controls. A binary logistic regression analysis was applied to assess the influence of gender on the association of CD40 polymorphisms with BD. Results. Our results showed significantly increased frequencies of the homozygous rs4810485 TT and rs1883832 TT in BD patients as compared with the controls [Bonferroni-corrected P-value for gender adjustment (P a c) = 0.006, odds ratio (OR) = 1.98, 95% confidence interval (CI) 1.38, 2.83; Pa c = 0.012, OR= 1.73, 95% CI 1.22, 2.46, respectively]. A markedly decreased frequency of the heterozygous rs4810485 GT was observed in BD patients as compared with the controls (P a c = 0.042, OR= 0.68, 95% CI 0.51, 0.90). The genotype and allele frequencies of rs4810485 and rs1883832 were not different between VKH patients and controls. Stratification analysis did not find any association between the tested SNPs and extra-ocular manifestations of both diseases. Conclusions. The results suggest that TT genotypes of rs4810485 and rs1883832 may be predisposing genotypes for BD, and that the rs4810485 GT genotype may be a protective genotype for BD. The two tested CD40 gene polymorphisms are not associated with VKH syndrome in the investigated Han Chinese population.

AB - Objectives. Recent genetic surveys including a genome-wide association study have identified CD40 as a susceptibility gene for several autoimmune diseases. This study was designed to investigate the association of CD40 gene polymorphisms with Behçet's disease (BD) and Vogt-Koyanagi-Harada (VKH) syndrome in a Han Chinese population. Methods. Two single nucleotide polymorphisms (SNPs), rs4810485 and rs1883832, were genotyped using polymerase chain reaction-restriction fragment length polymorphism in 373 BD patients, 519 VKH patients and 402 controls. A binary logistic regression analysis was applied to assess the influence of gender on the association of CD40 polymorphisms with BD. Results. Our results showed significantly increased frequencies of the homozygous rs4810485 TT and rs1883832 TT in BD patients as compared with the controls [Bonferroni-corrected P-value for gender adjustment (P a c) = 0.006, odds ratio (OR) = 1.98, 95% confidence interval (CI) 1.38, 2.83; Pa c = 0.012, OR= 1.73, 95% CI 1.22, 2.46, respectively]. A markedly decreased frequency of the heterozygous rs4810485 GT was observed in BD patients as compared with the controls (P a c = 0.042, OR= 0.68, 95% CI 0.51, 0.90). The genotype and allele frequencies of rs4810485 and rs1883832 were not different between VKH patients and controls. Stratification analysis did not find any association between the tested SNPs and extra-ocular manifestations of both diseases. Conclusions. The results suggest that TT genotypes of rs4810485 and rs1883832 may be predisposing genotypes for BD, and that the rs4810485 GT genotype may be a protective genotype for BD. The two tested CD40 gene polymorphisms are not associated with VKH syndrome in the investigated Han Chinese population.

KW - Association

KW - Behçet's disease

KW - Cd40

KW - Polymorphism

KW - Vogt-Koyanagi-Harada (VKH) syndrome

UR - http://www.scopus.com/inward/record.url?scp=84855161941&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84855161941&partnerID=8YFLogxK

U2 - 10.1093/rheumatology/ker345

DO - 10.1093/rheumatology/ker345

M3 - Article

VL - 51

SP - 47

EP - 51

JO - Rheumatology (United Kingdom)

JF - Rheumatology (United Kingdom)

SN - 1462-0324

IS - 1

M1 - ker345

ER -