CD40 gene polymorphisms confer risk of Behcet's disease but not of Vogt-Koyanagi-Harada syndrome in a Han Chinese population
CD40 gene polymorphisms confer risk of Behcet's disease but not of Vogt-Koyanagi-Harada syndrome in a Han Chinese population
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CD40 基因多态性会导致中国汉族人群患白塞氏病的风险，但不会导致沃格特-小柳-原田综合征的风险
DOI：
10.1093/rheumatology/ker345
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发表时间：
2012-01-01
期刊：
影响因子：
5.5
通讯作者：
Yang, Peizeng
中科院分区：
文献类型：
--
作者：
Chen, Feilan;Hou, Shengping;Yang, Peizeng
目标.最近的遗传调查，包括全基因组关联研究已确定CD 40作为几种自身免疫性疾病的易感基因。本研究旨在探讨中国汉族人群中CD 40基因多态性与白塞病（BD）和Vogt-Koyanagi-Harada（VKH）综合征的关系。采用聚合酶链反应-限制性片段长度多态性技术对373例BD患者、519例VKH患者和402例对照者的两个单核苷酸多态性（SNPs）rs 4810485和rs 1883832进行基因分型。应用二元Logistic回归分析评估性别对CD 40基因多态性与BD的关系。我们的结果显示，与对照组相比，BD患者中纯合子rs 4810485 TT和rs 1883832 TT的频率显著增加[性别校正的Bonferroni校正P值（P-c（a））= 0.006，比值比（OR）= 1.98，95%置信区间（CI）1.38，2.83; P-c（a）= 0.012，OR = 1.73，95%CI分别为1.22，2.46]。与对照组相比，BD患者rs 4810485 GT杂合子频率显著降低（P c（a）= 0.042，OR = 0.68，95%CI 0.51，0.90）。VKH患者和对照组之间rs 4810485和rs 1883832的基因型和等位基因频率无差异。分层分析未发现检测的SNPs与两种疾病的眼外表现之间存在任何关联。结果提示，rs 4810485和rs 1883832的TT基因型可能是BD的易感基因型，rs 4810485的GT基因型可能是BD的保护基因型。CD 40基因多态性与VKH综合征无相关性。
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 Behcet'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-c(a)) = 0.006, odds ratio (OR) = 1.98, 95% confidence interval (CI) 1.38, 2.83; P-c(a) = 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-c(a) = 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.