Objective To study the association between FTO rs9940128 gene polymorphism and T2DM in people of northern China. Methods The single nucleotide polymorphism of FTO rs9940128 was detected in 382 subjects with T2DM and 340 normal subjects by PCR-restriction fragment length polymorphism (PCR-RFLP). At the same time, the anthropometry and metabolism indices were measured for observation. Results The distribution of genotype and allele frequency were not significantly different between the normal subjects and subjects in T2DM group (P>0. 05). In the T2DM group, there was a significant difference in BMI and LDL-C between patients with A/A genotype versus A/G and G/G genotypes. These differences were also statistically significant even after the adjustment for sex and age factors (P<0. 05). No significant association was observed in BMI and biochemical indicators between subgroups of genotypes in FTO rs9940128 alleles in normal controls (P>0. 05). Conclusions The genetic variation in the rs9940128 polymorphism of the FTO may not be directly involved in susceptibility to T2DM. However, the genetic variations of FTO may be associated with increased BMI and LDL-C of T2DM in the people of northern China.%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 FTOrs9940128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.
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