中文摘要：

目的探讨毒蕈碱乙酰胆碱受体亚型3（CHRM3）基因T-149C多态性与2型糖尿病发病风险及代谢紊乱的相关性。方法用PCR—RFLP技术在573例上海地区汉族人中检测该基因位点的多态性，计算基因频率分布及比较不同基因型亚组间的各种临床代谢参数。结果（1）基因频率分布在2型糖尿病组和正常糖耐量组之间的差异无统计学意义。（2）在2型糖尿病组中，TT基因型人群体重指数显著高于TC＋CC基因型[（26．99±3．59vs25．34±3．48）kg／m^2，P=0．001]。（3）2型糖尿病组体重指数≥25kg／m^2亚组中TT基因型人群总胆固醇水平高于TC＋CC型[（5．75±1．26vs5．27±1．14）mmol／L，P=0．030]。结论CHRM3基因T-149C多态位点可能参与2型糖尿病患者体重和脂代谢调节。

英文摘要：

Objective To explore the possible association of single nucleotide polymorphism （SNP） rs3738435 of muscarinic acetylcholine receptor subtype M3 gene （ cholinergic receptor, muscarinic 3, CHRM3 ） with risk of type 2 diabetes mellitus （ DM ） and metabolic disturbance. Methods The genotypes of T - 149C variant of CHRM3 gene were determined by PCR-RFLP in 573 Chinese individuals in Shanghai, including 220 newly-diagnosed type 2 DM patients without taking any drug and 353 subjects with normal glucose tolerance （NGT）. In the subjects, height and weight were measured for body mass index （BMI） , waist, hip and femoral circumstances for waist-to-hip ratio （WHR） and waist-to-femur ratio （WFR）, and serum lipid level including total cholesterol, triglyceride, high-density and low-density lipoprotein cholesterol, blood pressure, plasma glucose levels both at 0 and 120 minute during oral 75 g glucose tolerance test （OGTI＇） were also determined. Results （ 1 ） There was no statistical difference in the gene frequency between groups of type 2 DM and NGT. （ 2 ） In the group of type 2 DM, significant differences were observed between TT genotype carriers and TC ＋ CC genotypes carriers for BMI, with an obvious increase in TT genotype carriers [ （26.99 ± 3.59 vs 25.34 ± 3.48 ）kg/m^2 ,P = 0.001 ]. （3） In the subgroup of type 2 DM with BMI ≥25 kg/m^2 , total cholesterol was higher in TT genotypes than in TC ＋ CC genotypes [ （ 5.75 ± 1.26 vs 5.27 ± 1. 14 ） mmol/L, P = 0. 030 ], so was the low-density lipoprotein cholesterol. Conclusion The genetic variation T - 149C in the CHRM3 gene seems to attribute to weight regulation and lipid metabolism of patients with type 2 diabetes mellitus in Chinese population.