沉默信息调节因子1基因与精神分裂症易感性及其临床症状的关联研究

Association study of silencing information regulator 1 gene with schizophrenia susceptibility and its clinical symptoms

目的:探讨沉默信息调节因子1(SIRT1)基因与精神分裂症及其症状维度之间的关系。方法:采用TaqMan分型技术对467例精神分裂症患者(病例组)和492名健康志愿者(对照组)的SIRT1基因rs3758391位点进行分型;采用阳性和阴性症状量表(PANSS)、卡尔加里抑郁症状评定量表(CDSS)和重复性神经心理状态测验(RBANS)评定患者精神病性症状、抑郁症状及认知功能。结果:病例组与对照组SIRT1基因rs3758391位点基因型和等位基因分布频率差异无统计学意义(χ^(2)=2.24,P=0.33;χ^(2)=2.22,P=0.14)。携带不同rs3758391位点基因型患者PANSS阴性症状评分与CDSS评分差异具有统计学意义(P<0.05或P<0.01);两两比较显示携带CC基因型患者PANSS阴性症状评分以及CDSS评分相比携带CT和TT基因型患者更高(P<0.05或P<0.01)。结论:SIRT1基因rs3758391位点并非精神分裂症的独立致病因素,但与精神分裂症患者阴性症状和抑郁症状的严重程度有关。

Objective:To explore the relationship between silencing information regulator 1(SIRT1)gene and schizophrenia and its clinical dimensions.Method:467 patients with schizophrenia(case group)and 492 healthy volunteers(control group)were genotyped by TaqMan SNP genotyping technique at rs3758391 of SIRT1 gene.The psychotic symptom,depressive symptom and cognitive function were assessed with Positive and Negative Symptom Scale(PANSS),Calgary Depression Scale for Schizophrenia(CDSS)and Repeatable Battery for the Assessment of Neuropsychological Status(RBANS).Results:There were no significant differences in genotypic and allelic frequencies of rs3758391 in SIRT1 gene between the case group and the control group(χ^(2)=2.24,P=0.33;χ^(2)=2.22,P=0.14).There were significant differences in PANSS negative symptom score and CDSS score in the patients with different rs3758391 genotypes(P<0.05 or P<0.01).Patients with CC genotype had higher scores of PANSS negative symptom and CDSS than those with CT genotype and TT genotype(P<0.05 or P<0.01).Conclusion:SIRT1 rs3758391 polymorphism is not an independent risk factor for schizophrenia,but it is associated with the severity of negative symptoms and depressive symptoms in the patients with schizophrenia.