糖基化终产物受体基因-429T／C和G1704T多态性位点与增生型糖尿病视网膜病变的相关性  

Association of -429T/C and G1704 polymorphisms in the receptor for advanced glycation end products gene with proliferative diabetic retinopathy

作　　者：魏文文[1] 樊文英[1] 吴佩蓓[1] 杨秀芬[1] 马凯[1] 刘宁朴[1] 

机构地区：[1]首都医科大学附属北京同仁医院北京同仁眼科中心北京市眼科学与视觉科学重点实验室,100730

出　　处：《中华眼底病杂志》2016年第2期130-134,共5页Chinese Journal of Ocular Fundus Diseases

基　　金：北京市自然科学基金（7131007）

摘　　要：目的探讨分析糖基化终产物受体基因-429T／C和G1704T多态性位点与增生型糖尿病视网膜病变（PDR）的相关性。方法病例对照研究。从北京德胜糖尿病眼病研究1467例患者人群中选取所有PDR患者97例（PDR组）以及糖尿病病程15年且没有任何糖尿病视网膜病变的患者105例（DWR组），共202例患者纳入研究。抽取两组患者外周静脉血2ml，从中提取基因组DNA。采用聚合酶链反应扩增糖基化终产物受体基因的-429T／c、G1704T多态性位点，酶切电泳分析，判定其基因型。随机抽取15％的样本进行DNA直接序列测序。对比DwR组、PDR组-429T／C、G1704T基因型频率和等位基因频率的差异，分析-429T／C、G1704T多态性位点与PDR的相关性。结果DwR组105例患者中，-429T／C野生型TT基因型占81．0％；变异型杂合子TC基因型占16．1％；变异型纯合子CC基因型占2．9％。野生型T等位基因占89．0％，变异型C等位基因占11．0％。PDR组97例患者中，-429T／C野生型TT基因型占77．3％；变异型杂合子TC基因型占20．6％；变异型纯合子CC基因型占2．1％。野生型T等位基因占87．6％，变异型C等位基因占12．4％。两组之间-429T／C基因型频率和等位基因频率比较，差异均无统计学意义（X2=0．40、0．20，P〉0．05）。DWR组105例患者中，G1704T野生型GG基因型占66．7％；变异型杂合子GT基因型占29．5％；变异型纯合子TT基因型占3．80．4。野生型G等位基因占81.4％，变异型c等位基因占18．6％。PDR组97例患者中，野生型GG基因型占78．4％；变异型杂合子GT基因型占21．6％。野生型T等位基因占89．2％，变异型C等位基因占10．8％。两组之间G1704T基因型频率比较，差异无统计学意义（X2=3．44，P〉0．05）；等位基因频率比较，差异有统计学意义（X2=4．79，比值比=1．88，95％可信区间：1．06～3．33，P〈0．05）。结论G1704T多Objective To determine the association of -429T/C and G1704T polymorphisms in the receptor for advanced glycation end products gene with proliferative diabetic retinopathy （PDR）. Methods Case-control study. From the Beijing Desheng Diabetic Eye Study cohort of 1467 patients with type 2 diabetes mellitus （T2DM）, a total of 97 patients with PDR and 105 diabetic patients without retinopathy （DWR, duration of diabetes 15 years） were included for this study. Questionnaires were collected and general ophthalmologic examinations were performed. Biochemical analysis was conducted. DNA was extracted from peripheral venous blood. The -429T/C and G1704T single nucleotide polymorphisms were detected by the means of PCR-restrication fragment length polymorphisms. Results The frequency distribution of -429T/C in DWR group was 81.0% in TT, 16.1% in TC, 2.9% in CC. The frequency distribution of -429T/C in PDR group was 77.3% in TT, 20. 6% in TC, 2.1% in CC. There was no significant statistical difference between the two groups （X2=0.40, P〉0.05）. Frequency of the -429T/C minor allele C in the DWR and PDR group were 11.0% and 12.4%, respectively, with no significant statistical difference between the two groups （X2 = 0.20, P〉0.05）. The frequency distribution of G1704T in DWR group was 66.7% in GG, 29.5% in GT, 3.8% in TT. The frequency distribution of G1.704T in PDR group was 78.4% in GG, 21.6% in GT. There was no significant statistical difference between the two groups （X2 =3.44, P〉0.05）. Frequency of the G1704T minor allele T in the DWR and PDR group were 18.6% and 10.8%, respectively, in which significant difference was found within the two groups （X2=4.79,0R=1.88,95%CI ;1.06 - 3.33, P〈0.05）. Conclusions G1704T polymorphism is associated with PDR presence and 1704G allele may increase the risk of PDR.

关 键 词：糖尿病视网膜病变/病因学 糖尿病视网膜病变/遗传学 糖基化终产物 高级/遗传 学 多态现象 遗传 

分 类 号：R587.2[医药卫生—内分泌] R774.1[医药卫生—内科学]