中国上海地区汉族人CAT基因-262C／T多态性与2型糖尿病及冠心病并发症的关系  

Relationship between-262C/T polymorphism of CAT gene and type 2 diabetes mellitus and diabetic coronary heart disease in Han ethnics of Shanghai

作　　者：赵瑞娥[1] 刘丽梅[1] 郑泰山[1] 魏盟[2] 

机构地区：[1]上海交通大学第六人民医院内分泌代谢科上海市糖尿病研究所,苏州大学苏州215006 [2]上海交通大学第六人民医院心血管内科,上海200233

出　　处：《上海交通大学学报（医学版）》2008年第5期556-560,共5页Journal of Shanghai Jiao tong University:Medical Science

基　　金：国家自然科学基金(39900071)~~

摘　　要：目的探讨过氧化氢酶(CAT)基因启动子区-262C/T多态性与2型糖尿病(T2DM)及冠心病(CHD)并发症的关系。方法以中国上海地区汉族无血缘关系的209例T2DM患者(T2DM组)和83名非DM非CHD的志愿者(对照组)作为研究对象。T2DM组根据有或无冠心病又分为无冠心病组,即T2DM-CHD(-)组(n=92)和冠心病组,即T2DM-CHD(+)组(n=117)。采用PCR-限制性片段长度多态性分析(PCR-RFLP)方法,分别检测各组CAT基因启动子区-262C/T多态的基因型,并比较组间基因型、等位基因频率分布及临床变量间的差异。结果①在研究人群中检测到CAT基因启动子区-262C/T多态的二种基因型CC和CT,未检测到TT基因型,基因型和等位基因分别以CC和C为主。②对照组和T2DM组基因型频率分布符合Hardy-Weinberg遗传平衡定律。③对照组与T2DM组、T2DM-CHD(-)组与T2DM-CHD(+)组两亚组间,多态基因型(CC、CT)和等位基因(C、T)频率分布均无显性差异(P>0.05);但对照组与文献报道的俄罗斯莫斯科和圣彼德堡非DM对照组的基因型、等位基因频率分布相比具有显著差异(P<0.001)。结论中国上海地区汉族人与俄罗斯莫斯科和圣彼德堡非DM者CAT基因-262C/T多态基因型(CC、CT)和等位基因(C、T)频率分布存在显著差异;CAT基因-262C/T多态性与中国上海地区汉族人T2DM及冠心病并发症无显著关联。Objective To explore the relationship between - 262C/T polymorphism of catalase （CAT） gene and type 2 diabetes mellitus（T2DM） and diabetic coronary heart disease （CHD）. Methods Two hundred and nine unrelated subjects of Han Ethnics in Shanghai with T2DM （T2DM group） and 83 volunteers without DM or CHD （ control group） were included in the study. Those in T2DM group were further divided into T2DM-CHD（ - ） group （without CHD, n =92） and T2DM-CHD（ ＋ ） group （with CHD, n = 117）. PCR-restriction fragment length polymorphism（PCR-RFLP） was employed to detect genotypes of -262C/T polymorphism of CAT gene, and genotypic, allelic frequencies and clinical characteristics were compared among the groups. Results ①Two genotypes, CC and CT, were detected, while no TT was detected for -262C/T polymorphism of CAT gene. The most frequent genotype and allele of the CAT -262C/T were CC and C. ②The genotypic frequencies in control group and T2DM group were in line with Hardy-Weinberg equilibrium law. ③There was no significant difference in genotypic（ CC, CT）and allelic frequencies（ C, T） between control group and T2DM group and between T2DM-CHD（-） group and CHD（ ＋ ） group （ P 〉 0.05）. However, significant differences were observed between control group and non-DM controls of St. Petersburg and Moscow reported by literatures（P 〈 0. 001）. Conclusion There are significant differences in genotypic（ CC, CT）and allelic frequencies（ C, T）for -262C/T polymorphism of CAT gene between Han ethnics of Shanghai and people of St. Petersburg or Moscow without DM. -262C/T polymorphism of CAT gene is not associated with T2DM and diabetic CHD in Han ethnics of Shanghai.

关 键 词：2型糖尿病 冠心病 过氧化氢酶 -262C/T多态性 

分 类 号：R587.1[医药卫生—内分泌] R541.4[医药卫生—内科学]