eNOS基因多态性与汉族人糖尿病合并颈动脉粥样硬化关系  

Association study between the polymorphisms of nitric oxide synthase gene and carotid atherosclerosis in type 2 diabetic in the Chinese Han population

作　　者：卢瑞春[1] 王昊[2] 郁金泰[1] 谭兰[1] 

机构地区：[1]青岛市市立医院神经内科,青岛266071 [2]青岛大学医学院附属医院

出　　处：《中国神经精神疾病杂志》2011年第11期683-686,共4页Chinese Journal of Nervous and Mental Diseases

摘　　要：目的探讨内皮型一氧化氮合酶(nitric oxide synthase,eNOS)基因第4内因子基因27 bp数目可变的串联重复序列(variable number of tandem repeats,VNTR)多态性与糖尿病合并颈动脉粥样硬化的关系。方法纳入189例糖尿病合并颈动脉粥样硬者和240名对照,分析各组间的等位基因频率与基因型频率的差异。结果糖尿病合并颈动脉粥样硬化患者的a等位基因频率高于对照组(9.78%、6.04%,掊2=4.119,P<0.05),差别有统计学意义;4a/4b+4a/4a基因型频率在糖尿病合并颈动脉粥样硬化组高于对照组(17.38%、11.65%,掊2=5.518,P<0.05),差异有统计学意义。用Logistic回归分析发现4a等位基因与糖尿病合并颈动脉粥样硬化具有显著相关性(OR=1.594,95%CI 1.256-1.741,P<0.000)。用多元Logistic回归分析校正了年龄、高血压、高血脂、体重指数和吸烟等危险因素的影响后,a等位基因是糖尿病合并颈动脉粥样硬化的遗传危险因素(OR=0.717,P<0.001)。证实eNOS基因VNTR多态性是影响汉族人群中糖尿病患者发生颈动脉粥样硬化的独立危险因素。结论在汉族人群中糖尿病合并颈动脉粥样硬化的发病与内皮型一氧化氮合酶(eNOS)第4内含子a等位基因密切相关。Objective To investigate the association between 27-base pair repeats polymorphism in intron 4 of eNOS gene and carotid atherosclerosis in type 2 diabetic in the Chinese Han population. Methods The two polymorphisms were analyzed in 189 patients of carotid atherosclerosis in type 2 diabetic and 240 controls of Chinese origin using polymerase chain reaction and its products were directly sequenced. Results The eNOS4a allele distribution frequency of eNOS gene in carotid atherosclerosis in type 2 diabetic group （9.78%） was higher than that in control group （6.04%）, and4a/4b ＋ 4a/4a distribution frequency of eNOS gene in carotid atherosclerosis in type 2 diabetic group （17.38%） was also higher than that in control group （11.65%）. Both differences between carotid atherosclerosis in type 2 diabetic group and control group were significant （all P 〈 0.05）. Marker eNOS4a allele was found associated with carotid atherosclerosis in type 2 diabetic （OR = 1.594, 95%CI = 1.256-1.741, P = 0.000）. After adjusted, a association was observed for eNOS4a allele using multivariate logistic regression analysis （P = 0.001,OR = 0.717）. Conclusions eNOS gene promoter polymorphisms are associated with ischemic stroke, the eNOS4a allele may rise the risk of carotid atberosclerosis in type 2 diabetic patients in the Chinese Han population.

关 键 词：内皮型一氧化氮合酶 基因多态性 糖尿病 颈动脉粥样硬化 

分 类 号：R743.3[医药卫生—神经病学与精神病学]