Mn-SOD基因Val(16)Ala多态性与2型糖尿病视网膜病变的相关性  

Correlation of Gene Polymorphism of Manganese Superoxide Dismutase and Type 2 Diabetic Retinopathy

作　　者：赵喆[1] 刘丽梅[1] 郑泰山[1] 

机构地区：[1]上海交通大学第六人民医院内分泌代谢病科上海市糖尿病研究所,上海200233

出　　处：《上海交通大学学报（医学版）》2006年第9期965-967,共3页Journal of Shanghai Jiao tong University:Medical Science

基　　金：国家自然科学基金(39900071)资助项目

摘　　要：目的探讨锰超氧化物歧化酶(Mn-SOD)基因Val(16)A la多态性与中国人2型糖尿病(T2DM)视网膜病变(DR)的相关性。方法选择上海地区无血缘关系汉族人258名,其中非糖尿病的健康者88人(对照组),T2DM患者170例(T2DM组)。根据有无DR将T2DM组再分为DR(-)组(n=83)和DR(+)组(n=87)。采用PCR-RFLP方法检测各组人群Mn-SOD基因Val(16)A la多态性,比较T2DM组和对照组Mn-SOD基因型频率及分布,同时在T2DM组内评价Val(16)A la多态性与DR的相关性。结果Mn-SOD基因Val(16)A la等位基因型频率和分布,在T2DM组和对照组之间均无显著性差异(P>0.05);DR(+)组Mn-SOD的VV基因型频率(92.0%)显著高于DR(-)组(77.1%)(P<0.01)。Logistic回归分析显示,VV基因型是DR发生的独立危险因素(P=0.02,OR=0.4785)。结论Mn-SOD基因的Val(16)A la多态性与中国人群T2DM无显著相关,但与DR显著相关。Objective To investigate the association of Val（16） Ala polymorphisms of manganese superoxide dismutase （Mn-SOD） gene and type 2 diabetic retinopathy （DR） in Chinese population. Methods Polymerase chain reaction-restriction fragment length polymorphism （PCR-RFLP） was performed to determine Val （16）Ala polymorphism of Mn-SOD gene in 258 Chinese subjects, including 170 patients with type 2 diabetes mellitus （T2DM group） and 88 non-diabetic control subjects （control group）. The T2DM group was further divided into diabetic retinopathy group [ DR（ ＋ ）, n = 87 ] and non-diabetic retinopathy group [ DR（ - ）, n = 83 ]. The allele frequency and genotype distribution of Val（16）Ala polymorphism were compared in T2DM group and the control group, and the association of Val（16） Ala polymorphisms of Mn-SOD gene with DR was also evaluated within T2DM group. Results The allele frequency and genotype of T2DM group were not significantly different from those of the control group（P 〉 0.05）. The frequency of VV genotype of Mn-SOD in the DR（ ＋ ） group was significantly higher than that in the DR（ - ） group （92.0% vs 77.1% , P 〈0.01）. Furthermore, logistic regression analysis showed that the Val（16） Ala polymorphisms was associated with DR independently （P =0.02, odds ratio =0.4785）. Conclusion The Val（16） Ala polymorphism of Mn-SOD gene may not relate to type 2 diabetes, but it seems to be associated with DR in Chinese type 2 diabetic patients.

关 键 词：2型糖尿病 糖尿病视网膜病变 锰超氧化物歧化酶 Val16Ala多态性 

分 类 号：R774.1[医药卫生—眼科] R587.1[医药卫生—临床医学]