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AluYb8MUTYH变异体导致细胞DNA 8-OHdG水平升高——中国人群2型糖尿病遗传风险研究

发表时间:2011-12-15  浏览量:1169  下载量:339
全部作者: 陈慧梅,孙彩霞,郭文文,孟然,杜宏,齐秋锋,顾昕,李丽荣,张奎,朱大龙,王亚平
作者单位: 南京大学医学院,江苏省医学分子技术重点实验室;南京大学医学院金陵医院;南京大学医学院附属鼓楼医院
摘 要: 研究MUTYH基因的一个常见变异(AluYb8MUTYH)在2型糖尿病(type 2 diabetes mellitus,T2DM)发病中的作用。对565例2型糖尿病患者和565例健康对照进行病例-对照分析,发现AluYb8MUTYH在糖尿病患者和对照中的分布不同,糖尿病患者中突变等位基因(P)的百分率明显增高[44.7%对40.3%,P=0.003,优势比(odds ratio, OR)=1.199],但在早发性或迟发性糖尿病患者之间没有差别。检测了66例2型糖尿病患者白细胞DNA中8-羟基脱氧鸟苷(8-OHdG)的含量,结果表明:每百万个dG中MUTYH基因野生型、AluYb8MUTYH杂合型和突变纯合型个体的8-OHdG含量分别为10.4,15.9和22.3,突变型与野生型相比P<0.001.因此,认为AluYb8MUTYH多态性可以作为2型糖尿病一个新的遗传风险因素,同时8-OHdG的积累也促进了2型糖尿病的发生。
关 键 词: 医学遗传学;MUTYH基因;8-羟基脱氧鸟苷;2型糖尿病;基因多态性
Title: AluYb8MUTYH variant increases 8-OHdG level in cell DNA: research on genetic risk of type 2 diabetes in Chinese
Author: CHEN Huimei, SUN Caixia, GUO Wenwen, MENG Ran, DU Hong, QI Qiufeng, GU Xin LI Lirong, ZHANG Kui, ZHU Dalong, WANG Yaping
Organization: Jiangsu Key Laboratory of Molecular Medicine, Medical School, Nanjing University; Jinling Hospital, Medical School of Nanjing University; Medical School Affiliated Drum Tower Hospital, Nanjing University
Abstract: This paper investigated the common variant of the MUTYH gene (AluYb8MUTYH) for its possible role in type 2 diabetes mellitus (T2DM). A total of 565 T2DM patients and 565 healthy subjects were enrolled in a case-control study. Statistic analysis showed that the distribution of AluYb8MUTYH differed in diabetic patients from controls, with a moderately increased percentage of the mutant allele (P) [44.7% versus 40.3%, P=0.033, odds ratio (OR)=1.199]. However, this distribution was similar between the diabetic early-onset and late-onset subgroups. In addition, 66 T2DM patients were further evaluated for 8-hydroxy-2’deoxyguanosine (8-OHdG) levels in genomic DNA. The average value of 8-OHdG in one million of deoxyguanosines was 10.4 in patients with the wild-type genotype, 15.9 with heterozygote, and 22.3 with homozygote variation respectively (P<0.001, compared with the wild-type). Therefore, the AluYb8MUTYH variant was a novel genetic risk factor for T2DM, and accumulated 8-OHdG could contribute to this disease.
Key words: medical genetics; MUTYH gene; 8-OHdG; type 2 diabetes mellitus; gene polymorphism
发表期数: 2011年12月第23期
引用格式: 陈慧梅,孙彩霞,郭文文,等. AluYb8MUTYH变异体导致细胞DNA 8-OHdG水平升高——中国人群2型糖尿病遗传风险研究[J]. 中国科技论文在线精品论文,2011,4(23):2019-2025.
 
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