河北地区FTO -rs9930506 基因多态性与T2DM 发病及认知功能的关系

目的 探讨肥胖相关基因（FTO ）rs9930506 位点多态性与2 型糖尿病（T2DM）发病及认知功能的关系。方法 收集450 例T2DM 患者作为T2DM 组，512 例同期于北京某社区招募的无T2DM 者为对照组。采用重复性成套神经心理状态测验量表评估两组患者的认知功能，限制性片段长度多态性技术检测FTO -rs9930506 位点多态性。结果 两组患者FTO -rs9930506 位点基因型及等位基因频率分布无差异（P >0.05）。两组女性患者rs9930506 位点等位基因频率分布有差异（P <0.05），G 等位基因女性携带者发生T2DM 的风险是A 基因型携带者的1.464 倍。两组男性患者FTO -rs9930506 位点等位基因及基因型频率分布无差异（P >0.05）。整体样本中，GG 基因型携带者体重指数高于AA、AG 基因型携带者（P <0.05），GG 基因型携带者言语能力、延迟记忆均低于AA、AG 基因型携带者（P <0.05）。结论 FTO -rs9930506 位点G 等位基因是女性T2DM 发病的危险等位基因，FTO -rs9930506 基因多态性参与T2DM 患者认知损伤。

FTO-rs9930506 polymorphism is associated with cognitive deficitand occurrence of type 2 diabetes in femalepatients of Hebei Province

Objective To investigate the correlations of fat mass and obesity associated (FTO)- rs9930506polymorphism with cognitive deficit and occurrence of type 2 diabetes (T2DM). Methods Totally 450 T2DMpatients hospitalized in Tangshan Gongren Hospital from March 2008 to March 2010 were enrolled as the patientgroup, and 512 persons without T2DM were collected from a community in Beijing at the same period as thecontrol group. RBANS was used to evaluate cognitive performance. Polymerase chain reaction-restriction fragmentlength polymorphism (PCR-RFLP) was applied to explore FTO-rs9930506 polymorphism. Results There was nosignificant difference either in allele distribution or genotype frequencies of FTO-rs9930506 locus between the patientand control groups (P > 0.05). However, significant difference was found in allele distribution between the femalesubjects of the two groups (P < 0.05); moreover, the subjects with G allele had 1.464 times higher risk to develop T2DM than the A allele carriers. Furhermore, BMI of the GG genotype carriers was higher than that of the AA andAG genotype carriers (P < 0.05), the language capability and delayed memory of the GG genotype carriers wereworse than those of the AA and AG genotype carriers (P < 0.05). Conclusions G allele of FTO-rs9930506 locus is arisk allele for female to develop T2DM. FTO-rs9930506 polymorphism plays a role in cognitive deficit of the patientswith T2DM.