PNPLA3基因rs738409多态性与代谢综合症在中国人群中的研究

Association Study of PNPLA3(rs73849 C>G) Polymorphism with Metabolic Syndrome in Chinese

目的:研究中国人群中PNPLA3基因rs738409位点多态性与代谢综合征之间的相关性。方法:收集了381例二型糖尿病患者和380例正常人的血液样本,使用全血提取试剂盒从781份样本中提取全基因组DNA,并利用飞行质谱技术进行目标位点的SNP分型,将分型结果与各临床指标进行统计学分析。结果:①经SNP分型结果与二型糖尿病病例-对照的关联性分析,rs738409位点多态性与二型糖尿病无显著相关性(P=0.74)。②经SNP分型结果与其他临床指标的统计分析,rs738409位点多态性与高密度脂蛋白水平(P=0.029),甘油三酯水平(P=0.021),总胆固醇水平(P=0.038)及谷丙转氨酶水平(P=0.004)显著相关。结论:rs738409位点多态性与二型糖尿病的发病无显著相关性,但它通过氨基酸替换影响了与其关系紧密的基因表达,进而影响机体内各因素代谢水平的改变。

Objective：A genome-wide study of adults identified a variant of PNPLA3（rs738409 CG） associated with metabolism disorders,nonalcoholic fatty liver disease and hepatitis.Hence this study tested the association of rs738409 in PNPLA3 with type 2 diabetes in Chinese population for the first time.Methods：The samples were genotyped using Sequenom MassARRAY Assay Design 3.0 Software to design Multiplexed SNP Mass EXTEND assay.381 cases of diabetic patients and 380 controls of healthy patients＇ blood was used to extract genomic DNA.SNP genotyping using the standard protocol recommended by the manufacturer was performed by Sequenom MassARRAY RS1000.Microsoft Excel and SPSS 16.0 were used to analyze the association of genotyping data with metabolic syndrome.Results：The results indicate that there was no significant correlation between T2DM and variant of rs738409,but the mutation of rs738409 in PNPLA3 was associated with ALT,CHO,TG,HDL（P0.05）,which may be a diabetes-causing mutation by calculated prediction.Conclusions：The results suggest that rs738409 variant have an effect on metabolic syndrome.