中国汉族人脂联素基因rs2241766及rs1501299多态性与2型糖尿病及代谢指标的关系

The association of between the polymorphisms of the adiponectin gene rs2241766 and rs1501299 and the metabolic traits of type 2 diabetes in Han Chinese

目的在中国汉族人群中,观察脂联素基因rs2241766(T>G)和rs1501299(G>T)多态性与2型糖尿病及胰岛素抵抗的关系。方法使用聚合酶链反应-单链构象多态性(PCR-SSCP)银染技术结合基因直接测序法,对糖耐量正常(NGT)者150例及2型糖尿病(T2DM)患者285例,进行基因的检测及代谢指标的观察。结果 rs2241766 TT、TG、GG基因型和rs1501299 GG、GT、TT基因型,在T2DM组及NGT组中的分布存在显著差异。rs2241766 G(TG+GG)等位基因携带者患T2DM的风险增加2倍,而rs1501299 TT携带者患T2DM的风险下降;偏相关分析显示,rs2241766 G(TG+GG)等位基因与HOMAIR呈现正相关,rs1501299 TT基因型与HOMAIR呈现负相关;rs2241766 G携带者以及rs1501299 TT携带者的体质量指数(BMI)、腰臀部(WHR)、体脂百分比(%body fat)显著升高。结论 rs2241766 G是中国汉族人T2DM的危险因素,而rs1501299 TT则是保护因素。

Objective To investigate the impact of the single nucleotide polymorphisms rs2241766（TG） and rs1501299（GT） in the adiponectin gene on type 2 diabetes mellitus（T2DM） and insulin resistance in Han Chinese volunteers.Methods Genotypes of 150 subjects with normal glucose tolerance（NGT） and 285 subjects with T2DM,who were Han Chinese residents of the Anhui region,were investigated by using the PCR-SSCP silver staining technique,combined with direct sequencing.Results Significant differences were observed in the frequency distribution of the TT,TG and GG genotypes of rs2241766 and the GG,TG and TT genotypes of rs2241766 between the subjects with T2DM and those with NGT.The G（TG＋GG） allele of rs2241766 showed a 2-fold higher risk of T2DM compared with the TT genotype.The TT genotype of rs1501299 showed a lower risk of T2DM compared with the G allele.The partial correlation analysis indicated that the G allele of rs2241766 was positively related to HOMAIR,while the TT genotype of rs1501299 was negatively related to HOMAIR.Carriers of the rs2241766 and rs1501299 risk genotype have some features of insulin resistance.Conclusion The G allele of rs2241766 contribute to the genetic risk of T2DM,but the TT genotype of rs1501299 is a potentially protective factor of T2DM in the Han Chinese population.