首发精神分裂症DNMT1基因多态性与认知功能关系

摘要

目的 探讨首发、未治疗精神分裂症DNA甲基转移酶1(DNA methyctransferace 1,DNMT1)基因多态性与认知功能的关系.方法 收集首发、未治疗的精神分裂症患者186例和健康对照182名,以MATRICS成套共识认知功能评定工具对全部被试进行认知功能评定,以聚合酶链反应技术对全部被试进行 DNMT1 (rs2114724和rs2228611)基因多态性检测,比较两组的认知功能、SNP rs2114724和rs2228611的基因型和等位基因分布,分析DNMT1基因多态性与认知功能的关系.结果 精神分裂症组和对照组的SNP rs2114724和rs2228611基因型以及等位基因分布差异均无统计学意义(P>0.05).rs2114724不同基因型的精神分裂症患者之间认知功能评定成绩比较,具有C/C基因型患者的空间广度测验成绩优于T/T和T/C基因型患者(P<0.05),其他测验成绩组间比较差异均无统计学意义(P>0.05).结论 DNMT1基因多态性可能与首发精神分裂症不相关,但可能与认知功能中的工作记忆相关.%Objective To explore the relationship between DNA methyctransferace1(DNMT1)gene polymorphism and cognitive function in the first episode, drug-na?ve schizophrenia. Methods One hundred eighty-six first episode, drug-na?ve schizophrenia patients and 182 healthy controls were examined by using polymerase chain reaction (PCR), denaturing polyacrylamide gel electrophoresis and silver staining to determine genotype and allele of DNMT1 gene. Cognitive function was assessed by using the standardized measurement tools—the Measurement and Treatment Research to Improve Cognition in Schizophrenia (MATRICS) Consensus Cognitive Battery (MCCB) Chinese version. Comparisons were made on the cognitive function and the genotype and allele distribution of SNP rs2114724 and rs2228611 between schizophrenia group and the control group.The relationship between DNMT1 gene polymorphism and cognitive function was analyzed. Results There was no significant difference of the genotype T/T, T/C, C/C and allele T, C distribution of SNP rs2114724 between schizophrenia group and healthy controls group (P>0.05). There was no significant difference of the genotype G/G, G/A, A/A and allele G, A distribution of SNP rs2228611 between schizophrenia group and healthy control group (P>0.05). There was significant difference in Spatial Span Test (SST) scores(P<0.05)among three different genotype T/T,T/C and C/C of rs2114724 in schizophrenic group.The SST scores of the patients with C/C genotype were higher than that of the patients with T/T or T/C genotype (P<0.05). Conclusion DNMT1 gene polymorphisms is not associated with the first-episode, drug-na?ve schizophrenia, but may be associated with the work memory in cognitive function of schizophrenia in the Chinese Han population.