The First Affiliated Hospital of Chongqing Medical University, Chongqing Key Laboratory of Ophthalmology, Chongqing Eye Institute, Chongqing, China.
PLoS One. 2013 Jul 23;8(7):e69358. doi: 10.1371/journal.pone.0069358. Print 2013.
Polymorphisms of the CC chemokine receptor 6 (CCR6) and FGFR10P tagSNP (locus close to CCR6) at 6q27 have recently been reported to be associated with the susceptibility to several immune-related diseases. This study was designed to determine the association of CCR6 and FGFR10P (tag)SNPs with Vogt-Koyanagi-Harada (VKH) syndrome, an autoimmune disease directed against melanocytes, in two independent Chinese Han populations.
METHODOLOGY/PRINCIPAL FINDINGS: A total of 601 VKH patients and 725 healthy controls from two Chinese Han populations were genotyped by the polymerase chain reaction-restriction fragment length polymorphism method. Hardy-Weinberg equilibrium was tested using the χ(2) test. Genotype frequencies were estimated by direct counting. Allele and genotype frequencies were compared between patients and controls using the χ(2) test. The frequency of the A allele of rs2301436 was significantly higher both in Cohort 1 and Cohort 2 as compared with two separate controls (P = 0.044; P = 0.049, respectively). The significance was lost after Bonferroni correction in both cohorts (Pc = 0.516; Pc = 0.392, respectively). The frequency of the A allele was significantly higher in the combined patient group as compared with all controls before and after Bonferroni correction (P = 0.005, Pc = 0.025). The genotype and allele frequencies of rs3093024, rs6902119, rs3093023 and rs968334 were not different between patients with VKH and healthy controls based on analysis either for both cohorts or for the patients and controls in total. Analysis according to extra ocular clinical findings including headache, alopecia and poliosis, vitiligo and tinnitus did not show any association of the five polymorphisms with these parameters.
These results suggest that the rs2301436 tagSNP of FGFR10P is positively associated with susceptibility to VKH syndrome in the tested Chinese Han populations. No association was found for the tested CCR6 SNPs.
CC 趋化因子受体 6(CCR6)和 FGFR10P 标签 SNP(位于 6q27 附近的基因座)的多态性最近被报道与几种免疫相关疾病的易感性有关。本研究旨在确定 CCR6 和 FGFR10P(标签)SNP 与 Vogt-Koyanagi-Harada(VKH)综合征的关联,VKH 综合征是一种针对黑色素细胞的自身免疫性疾病,在两个独立的汉族人群中进行。
方法/主要发现:通过聚合酶链反应-限制性片段长度多态性方法对来自两个汉族人群的 601 名 VKH 患者和 725 名健康对照者进行了基因分型。使用卡方检验测试 Hardy-Weinberg 平衡。通过直接计数估计等位基因和基因型频率。使用卡方检验比较患者和对照组之间的等位基因和基因型频率。与两个单独的对照组相比,rs2301436 的 A 等位基因在队列 1 和队列 2 中的频率均显著升高(P=0.044;P=0.049)。在两个队列中,经 Bonferroni 校正后,其显著性均丧失(Pc=0.516;Pc=0.392)。与所有对照组相比,在未经 Bonferroni 校正的情况下,合并患者组的 A 等位基因频率显著升高(P=0.005,Pc=0.025)。根据对两个队列或患者和对照组的总分析,rs3093024、rs6902119、rs3093023 和 rs968334 的基因型和等位基因频率在 VKH 患者和健康对照者之间没有差异。根据包括头痛、脱发和白化病、白癜风和耳鸣在内的眼外临床发现进行分析,未发现这五个多态性与这些参数之间存在任何关联。
这些结果表明,FGFR10P 的 rs2301436 标签 SNP 与汉族人群中 VKH 综合征的易感性呈正相关。未发现所测试的 CCR6 SNPs 的相关性。