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白细胞介素 23 受体基因多态性与中国汉族人群 Vogt-小柳原田综合征的相关性研究。

Polymorphisms of IL23R and Vogt-Koyanagi-Harada syndrome in a Chinese Han population.

机构信息

The First Affiliated Hospital of Chongqing Medical University, Chongqing, People's Republic of China.

出版信息

Hum Immunol. 2010 Apr;71(4):414-7. doi: 10.1016/j.humimm.2010.01.026. Epub 2010 Feb 8.

Abstract

Polymorphisms of interleukin-23 receptor (IL23R) gene have recently been reported to be associated with the susceptibility to several immune-related diseases. The aim of this study was to determine the association of IL23R polymorphisms with Vogt-Koyanagi-Harada (VKH) syndrome, a disease presumably mediated by autoimmune response. A total of 382 Chinese Han patients with VKH syndrome and 407 healthy controls were genotyped by the polymerase chain reaction-restriction fragment length polymorphism method. Data were analyzed by chi(2) analysis. All genotype distributions in healthy controls were in Hardy-Weinberg equilibrium. There was no difference among the investigated four single nucleotide polymorphisms concerning the linkage disequilibrium between the tested samples and those available in the international HapMap. The genotype and allele frequencies of rs17375018, rs7517847, rs11209032, and rs1343151 were not different between patients with VKH syndrome and healthy controls. Analysis according to gender and clinical findings did not show any association of the four polymorphisms with these parameters. In conclusion, the tested IL23R gene polymorphisms are not associated with the susceptibility to VKH syndrome in the Chinese Han population.

摘要

白细胞介素-23 受体 (IL23R) 基因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 IL23R 多态性与 Vogt-Koyanagi-Harada (VKH) 综合征的相关性,VKH 综合征是一种推测由自身免疫反应介导的疾病。采用聚合酶链反应-限制性片段长度多态性方法对 382 例中国汉族 VKH 综合征患者和 407 名健康对照者进行基因分型。采用卡方检验进行数据分析。所有健康对照组的基因型分布均符合哈迪-温伯格平衡。在所研究的四个单核苷酸多态性中,未发现测试样本与国际 HapMap 中可用样本之间存在连锁不平衡。VKH 综合征患者与健康对照组之间 rs17375018、rs7517847、rs11209032 和 rs1343151 的基因型和等位基因频率无差异。根据性别和临床发现进行的分析并未显示这四个多态性与这些参数之间存在任何关联。综上所述,在中国汉族人群中,所检测的 IL23R 基因多态性与 VKH 综合征的易感性无关。

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