Yang Ming-ming, Lai Timothy Y Y, Tam Pancy O S, Chiang Sylvia W Y, Chan Carmen K M, Luk Fiona O J, Ng Tsz-Kin, Pang Chi-Pui
Department of Ophthalmology and Visual Sciences, The Chinese University of Hong Kong, Hong Kong, China.
Mol Vis. 2012;18:1865-72. Epub 2012 Jul 11.
To investigate the associations of complement factor H (CFH), KIAA1109, and interleukin-27 (IL-27) gene polymorphisms in patients with non-infectious intermediate and posterior uveitis.
The study cohort consisted of a total of 95 Chinese non-infectious uveitis patients, including 38 patients with intermediate uveitis (IU), 38 patients with Vogt-Koyanagi-Harada disease (VKH), and 19 patients with Behçet's disease and 308 healthy controls. The genotypes of CFH-rs800292, KIAA1109-rs4505848, and IL27-rs4788084 were determined using TaqMan single nucleotide polymorphism genotyping assays.
The frequency of carriers of G allele for CFH-rs800292 was significantly higher in patients with non-infectious intermediate and posterior uveitis than in controls (GG/AG versus AA; p=0.02). No significant association was found between uveitis and both KIAA1109-rs4505848 and IL27-rs4788084. In stratified analysis by gender, the frequency of carriers with G allele for KIAA1109-rs4505848 was significantly higher in male uveitis patients than in male controls (GG/AG versus AA; p=0.034). There was no significant difference in allelic and genotypic frequencies for CFH-rs800292 and IL27-rs4788084 in either male or female groups. In addition, higher frequency of KIAA1109-rs4505848 G allele was found in Behçet's disease patients compared with controls and IU patients (p=0.01 and p=0.003, respectively).
Our results demonstrated that CFH-rs800292 and KIAA1109-rs4505848 are associated with non-infectious intermediate and posterior uveitis. Moreover, gender susceptibility for uveitis might be involved in the KIAA1109 gene and the KIAA1109-rs4505848 polymorphism might be associated with the development of Behçet's disease.
探讨补体因子H(CFH)、KIAA1109和白细胞介素-27(IL-27)基因多态性与非感染性中间葡萄膜炎和后葡萄膜炎患者的相关性。
研究队列共纳入95例中国非感染性葡萄膜炎患者,包括38例中间葡萄膜炎(IU)患者、38例Vogt-小柳-原田病(VKH)患者、19例白塞病患者以及308例健康对照者。采用TaqMan单核苷酸多态性基因分型检测法测定CFH-rs800292、KIAA1109-rs4505848和IL27-rs4788084的基因型。
非感染性中间葡萄膜炎和后葡萄膜炎患者中CFH-rs800292的G等位基因携带者频率显著高于对照组(GG/AG与AA相比;p=0.02)。未发现葡萄膜炎与KIAA1109-rs4505848和IL27-rs4788084之间存在显著关联。在按性别分层分析中,男性葡萄膜炎患者中KIAA1109-rs4505848的G等位基因携带者频率显著高于男性对照组(GG/AG与AA相比;p=0.034)。CFH-rs800292和IL27-rs4788084的等位基因和基因型频率在男性或女性组中均无显著差异。此外,与对照组和IU患者相比,白塞病患者中KIAA1109-rs4505848的G等位基因频率更高(分别为p=0.01和p=0.003)。
我们的结果表明,CFH-rs800292和KIAA1109-rs4505848与非感染性中间葡萄膜炎和后葡萄膜炎相关。此外,葡萄膜炎的性别易感性可能与KIAA1109基因有关,且KIAA1109-rs4505848多态性可能与白塞病的发生有关。