RAD51 gene is associated with advanced age-related macular degeneration in Chinese population.
RAD51 gene is associated with advanced age-related macular degeneration in Chinese population.
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DOI：
10.1016/j.clinbiochem.2013.07.002
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发表时间：
2013-11
影响因子：
2.8
通讯作者：
Jie Zhou;Dan Wang;Junjun Zhang;Meixia Zhang;Fang Lu;G. Qiu;Ling Zhao;D. Nguyen;Hongrong Luo;Guiqun Cao;Wei Zhang;Wei Jiang;Gen Li;Kang Zhang;Ming Zhang;Z. Su
中科院分区：
文献类型：
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作者：
Jie Zhou;Dan Wang;Junjun Zhang;Meixia Zhang;Fang Lu;G. Qiu;Ling Zhao;D. Nguyen;Hongrong Luo;Guiqun Cao;Wei Zhang;Wei Jiang;Gen Li;Kang Zhang;Ming Zhang;Z. Su
目的探讨中国老年性黄斑变性（AMD）患者中RAD 51、B3 GALTL、TNFRSF 10A和REST-C4 ORF 14-POLR 2B-IGFBP 7基因的变异与AMD的关系。从外周血白细胞中提取基因组DNA。采用聚合酶链反应（PCR）技术检测CFH、HTRA 1、RAD 51、B3 GALTL、TNFRSF 10A和REST-C4 ORF 14-POLR 2B-IGFBP 7 7 7个单核苷酸多态性（SNP）。与野生型GG基因型相比，杂合子TG基因型晚期AMD风险的比值比为4.92（95%置信区间：1.04-23.36）。rs 10483810位点GT基因型患者患双侧AMD的风险显著高于单侧AMD（OR = 12.04，95%CI：2.50- 57.69，P = 0.002）。TNFRSF 10A中的rs 13278062、REST-C4 ORF 14-POLR 2B-IGFBP 7中的rs 1713985和B3 GALTL中的rs 9542236与AMD无关（均P> 0.05）。
ObjectivesThis study aims to investigate whether variations inRAD51,B3GALTL,TNFRSF10AandREST-C4ORF14-POLR2B-IGFBP7are associated with advanced forms of age-related macular degeneration (AMD) in Chinese population.Design and methodsA 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,TNFRSF10AandREST-C4ORF14-POLR2B-IGFBP7were genotyped by polymerase chain reaction (PCR) followed by allele-specific restriction enzyme digestion or SNaPshot.ResultsRs10483810 inRAD51was 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 inTNFRSF10A, rs1713985 inREST-C4ORF14-POLR2B-IGFBP7and rs9542236 inB3GALTLwere not found to be associated with AMD (allP> 0.05).ConclusionOur data suggested that the risk allele T of rs10483810 inRAD51gene is associated with an increased risk of advanced AMD, especially bilateral AMD, in Chinese population.