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目的探讨锰超氧化物歧化酶(Mn SOD)基因rs4880位点多态性与2型糖尿病(T2DM)发生及认知功能的相关性。方法选取2008年3月—2010年3月唐山工人医院住院治疗的T2DM患者450例为病例组,同期于北京某社区招募无T2DM者512例为对照组。检测受试者空腹血糖(FPG)及三酰甘油(TG)、总胆固醇(TC)、高密度脂蛋白胆固醇(HDL-C)、低密度脂蛋白胆固醇(LDL-C)临床表型。采用重复性成套神经心理状态测验量表(RBANS)评价受试者认知功能。采用限制性片段长度多态性PCR技术检测Mn SOD基因rs4880位点多态性。结果Mn SOD基因rs4880位点基因型为TT、CT和CC。两组rs4880位点基因型及等位基因频率分布比较,差异均无统计学意义(P>0.05)。两组女性受试者rs4880位点基因型分布比较,差异有统计学意义(P<0.05);其中,CT基因型受试者发生T2DM的风险是TT基因型的2.188倍〔95%CI(1.413,3.388)〕。两组女性受试者rs4880位点等位基因频率分布比较,差异有统计学意义(P<0.05);其中,C等位基因发生T2DM的风险是T等位基因的1.926倍〔95%CI(1.310,2.830)〕。两组男性受试者rs4880位点基因型及等位基因频率分布比较,差异均无统计学意义(P>0.05)。病例组rs4880位点多态性与TC、LDL-C及胰岛素抵抗指数(HOMA-IR)相关(P<0.05),而未发现与FPG、TG、HDL-C相关(P>0.05)。病例组rs4880位点多态性与RBANS延迟记忆相关(P<0.05),而未发现与即刻记忆、视觉广度、言语功能、注意及总分相关(P>0.05)。结论 Mn SOD基因rs4880位点CT、C是女性T2DM发病的危险基因型和等位基因,T2DM患者RBANS延迟记忆评分与Mn SOD基因rs4880位点多态性有关。
Objective To investigate the association of rs4880 polymorphism of manganese superoxide dismutase (Mn SOD) gene with type 2 diabetes mellitus (T2DM) and cognitive function. Methods A total of 450 T2DM patients hospitalized in Tangshan Workers Hospital from March 2008 to March 2010 were selected as the case group. 512 patients without T2DM were enrolled in a community in Beijing during the same period as the control group. The fasting blood glucose (FPG), triglyceride (TG), total cholesterol (TC), high density lipoprotein cholesterol (HDL-C) and low density lipoprotein cholesterol (LDL-C) Repetitive sets of neuropsychological state test (RBANS) were used to evaluate the cognitive function of the subjects. Restriction fragment length polymorphism PCR was used to detect rs4880 polymorphism of Mn SOD gene. Results The genotypes of rs4880 of Mn SOD gene were TT, CT and CC. There were no significant differences in genotype and allele frequency distribution between rs4880 loci in the two groups (P> 0.05). The genotype distributions of rs4880 locus in two groups of women were statistically significant (P <0.05). Among them, the risk of T2DM in CT genotype was 2.188 times that of TT genotype (95% CI 1.413 , 3.388)]. There was significant difference in allele frequencies of rs4880 between the two groups (P <0.05). The risk of T2DM in C allele was 1.926 times that of T allele [95% CI ( 1.310, 2.830)]. There was no significant difference in genotype and allele frequencies of rs4880 between two groups (P> 0.05). The polymorphism of rs4880 in case group was correlated with TC, LDL-C and HOMA-IR (P <0.05), but not with FPG, TG and HDL-C (P> 0.05). The rs4880 polymorphism in case group was associated with delayed memory of RBANS (P <0.05), but no correlation was found with immediate memory, visual breadth, speech function, attention and total score (P> 0.05). Conclusions CT and C of rs4880 Mn SOD gene are risk genotypes and alleles of T2DM in women. RBANS delay memory score of T2DM patients is related to rs4880 polymorphism of Mn SOD gene.