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目的研究中国北方汉族人群FTO(fat mass and obesity associated)基因rs9940128单核苷酸多态性(SNP)与T2DM及其代谢紊乱的相关性。方法应用限制性片段长度多态性(RFLP)方法,对722例山东临沂地区汉族人(T2DM组382例、NC组340名)的rs9940128进行基因分型;同时进行人体测量学和代谢指标的检测。结果 FTO rs9940128位点等位基因及基因型频率分布在两组间差异无统计学意义(P>0.05)。T2DM组rs9940128AA基因型BMI和LDL-C比AG、GG基因型组明显升高,这种统计学差异经年龄、性别因素校正后依然存在(P<0.05)。对照组各基因型亚组之间生化指标和BMI差异无统计学意义(P>0.05)。结论 FTO rs9940128可能不是中国北方汉族人群T2DM的易感基因,但rs9940128基因型变异可能与中国北方汉族人群T2DM患者的肥胖和LDL-C升高有关。
Objective To investigate the association of rs9940128 single nucleotide polymorphism (SNP) with T2DM and its metabolic disorders in FTO (fat mass and obesity associated) population of North China. Methods RFLP method was used to genotype rs9940128 in 722 Han population (382 cases in T2DM group and 340 in NC group) in Linyi district of Shandong province. At the same time, the anthropometric and metabolic parameters were detected . Results There was no significant difference in allele frequency and genotype frequency between FTO rs9940128 loci and control group (P> 0.05). The rs9940128AA genotype BMI and LDL-C in T2DM group were significantly higher than those in AG and GG genotype group, and the statistic differences still persisted after adjustment for age and gender (P <0.05). There was no significant difference in biochemical parameters and BMI between the subgroups of control genotypes (P> 0.05). Conclusion FTO rs9940128 may not be susceptible to T2DM in Han population of northern China. However, the genotypic variation of rs9940128 may be related to the increase of obesity and LDL-C in T2DM patients in Han population of northern China.