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 deficit and occurrence of type 2 diabetes in female patients of Hebei Province

Objective To investigate the correlations of fat mass and obesity associated (FTO)- rs9930506 polymorphism with cognitive deficit and occurrence of type 2 diabetes (T2DM). Methods Totally 450 T2DM patients hospitalized in Tangshan Gongren Hospital from March 2008 to March 2010 were enrolled as the patient group, and 512 persons without T2DM were collected from a community in Beijing at the same period as the control group. RBANS was used to evaluate cognitive performance. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) was applied to explore FTO-rs9930506 polymorphism. Results There was no significant difference either in allele distribution or genotype frequencies of FTO-rs9930506 locus between the patient and control groups (P > 0.05). However, significant difference was found in allele distribution between the female subjects 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 and AG genotype carriers (P < 0.05), the language capability and delayed memory of the GG genotype carriers were worse than those of the AA and AG genotype carriers (P < 0.05). Conclusions G allele of FTO-rs9930506 locus is a risk allele for female to develop T2DM. FTO-rs9930506 polymorphism plays a role in cognitive deficit of the patients with T2DM.