Shi Yanyun, Jia Yading, Hou Shengping, Fang Jing, Zhou Yan, Kijlstra Aize, Yang Peizeng
The First Affiliated Hospital of Chongqing Medical University, Chongqing, China.
Shanxi Eye Hospital, Taiyuan, Shanxi, China.
PLoS One. 2014 May 2;9(5):e95573. doi: 10.1371/journal.pone.0095573. eCollection 2014.
The aim of the study was to investigate the association of TNFα-induced protein 3 interacting with protein 1 (TNIP1) gene polymorphisms with Vogt-Koyanagi-Harada (VKH) syndrome and Behcet's disease (BD) in a Han Chinese population.
A total of 656 BD patients, 961 VKH syndrome patients and 1534 healthy controls were included in this two-stage case control study. Seven SNPs, including rs17728338, rs7708392, rs10036748, rs3762999, rs999556, rs4958881 and rs3792783, belonging to TNIP1 were genotyped and analyzed by the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. The data were analyzed by using the χ2 or Fisher's exact test and corrected for multiple comparisons by the Bonferroni method.
A significantly increased frequency of the GG genotype and a decreased frequency of the AG genotype of rs17728338 were found in VKH patients (Pc = 0.038 OR = 1.934, 95% CI = 1.438 ∼ 2.601). No significant difference was noted in allele or genotype frequencies of rs7708392, rs10036748, rs3762999, rs999556, rs4958881 and rs3792783, between VKH patients and healthy controls (Pc>0.05). No significant difference was noted in allele or genotype frequencies of the tested 7 SNPs between BD patients and healthy controls. Analysis of extraocular clinical findings, did not reveal an association of the TNIP1 gene polymorphisms with BD or VKH syndrome subgroups.
A TNIP1 polymorphism may be a risk factor for VKH syndrome in Han Chinese.
本研究旨在探讨肿瘤坏死因子α诱导蛋白3相互作用蛋白1(TNIP1)基因多态性与中国汉族人群Vogt-小柳-原田(VKH)综合征及白塞病(BD)的相关性。
本两阶段病例对照研究共纳入656例BD患者、961例VKH综合征患者及1534例健康对照。采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)方法对属于TNIP1的7个单核苷酸多态性(SNP),包括rs17728338、rs7708392、rs10036748、rs3762999、rs999556、rs4958881和rs3792783进行基因分型和分析。数据采用χ2检验或Fisher精确检验进行分析,并采用Bonferroni法对多重比较进行校正。
VKH患者中rs17728338的GG基因型频率显著增加,AG基因型频率降低(Pc = 0.038,OR = 1.934,95%CI = 1.438~2.601)。VKH患者与健康对照之间,rs7708392、rs10036748、rs3762999、rs999556、rs4958881和rs3792783的等位基因或基因型频率无显著差异(Pc>0.05)。BD患者与健康对照之间,所检测的7个SNP的等位基因或基因型频率无显著差异。眼外临床表现分析未发现TNIP1基因多态性与BD或VKH综合征亚组之间存在关联。
TNIP1基因多态性可能是中国汉族人群VKH综合征的一个危险因素。