Molecular Medicine Research Center, State Key Laboratory of Biotherapy, West China Hospital, Sichuan University, Chengdu 610041, China; Department of Ophthalmology, West China Hospital, Sichuan University, Chengdu 610041, China.
Clin Biochem. 2013 Nov;46(16-17):1689-93. doi: 10.1016/j.clinbiochem.2013.07.002. Epub 2013 Jul 15.
This study aims to investigate whether variations in RAD51, B3GALTL, TNFRSF10A and REST-C4ORF14-POLR2B-IGFBP7 are associated with advanced forms of age-related macular degeneration (AMD) in Chinese population.
A total of 119 Chinese patients with AMD and 99 control individuals were recruited. Genomic DNA was extracted from peripheral blood leukocytes. Seven single nucleotide polymorphisms (SNPs) from CFH, HTRA1, RAD51, B3GALTL, TNFRSF10A and REST-C4ORF14-POLR2B-IGFBP7 were genotyped by polymerase chain reaction (PCR) followed by allele-specific restriction enzyme digestion or SNaPshot.
Rs10483810 in RAD51 was significantly associated with advanced AMD (P=0.045). Compared with the wild-type genotype GG, the odds ratio for the risk of advanced AMD was 4.92 (95% confidence interval: 1.04-23.36) for the heterozygous TG genotype. Moreover, the GT genotype at rs10483810 confers significantly increased risk of bilateral AMD compared to unilateral AMD (OR=12.04, 95% CI: 2.50-57.69, P=0.002). Rs13278062 in TNFRSF10A, rs1713985 in REST-C4ORF14-POLR2B-IGFBP7 and rs9542236 in B3GALTL were not found to be associated with AMD (all P>0.05).
Our data suggested that the risk allele T of rs10483810 in RAD51 gene is associated with an increased risk of advanced AMD, especially bilateral AMD, in Chinese population.
本研究旨在探讨 RAD51、B3GALTL、TNFRSF10A 和 REST-C4ORF14-POLR2B-IGFBP7 中的变异是否与中国人群中晚期年龄相关性黄斑变性（AMD）有关。
共招募了 119 名中国 AMD 患者和 99 名对照个体。从外周血白细胞中提取基因组 DNA。通过聚合酶链反应（PCR）后进行等位基因特异性限制性内切酶消化或 SNaPshot 对 CFH、HTRA1、RAD51、B3GALTL、TNFRSF10A 和 REST-C4ORF14-POLR2B-IGFBP7 中的 7 个单核苷酸多态性（SNP）进行基因分型。
RAD51 中的 rs10483810 与晚期 AMD 显著相关（P=0.045）。与野生型基因型 GG 相比，杂合性 TG 基因型患晚期 AMD 的风险比为 4.92（95%置信区间：1.04-23.36）。此外，与单侧 AMD 相比，rs10483810 的 GT 基因型使双侧 AMD 的风险显著增加（OR=12.04，95%CI：2.50-57.69，P=0.002）。TNFRSF10A 中的 rs13278062、REST-C4ORF14-POLR2B-IGFBP7 中的 rs1713985 和 B3GALTL 中的 rs9542236 未发现与 AMD 相关（均 P>0.05）。
我们的数据表明，RAD51 基因中 rs10483810 的风险等位基因 T 与中国人群中晚期 AMD、特别是双侧 AMD 的风险增加有关。
