补体因子H基因Y402H位点多态性与精神分裂症及其临床特征的相关性分析

摘要

目的:探讨补体因子H基因(CFH)Y402H位点多态性与精神分裂症及其临床特征的相关性.方法:采用阳性和阴性症状量表(PANSS)及重复性神经心理状态测验(RBANS)对254例稳定期精神分裂症患者(病例组)进行精神病性症状及认知功能评估;采用SNaPshot技术对病例组及339名健康者(正常对照组)Y402H位点进行基因分型和比较;分析Y402H位点多态性与精神分裂症及其临床特征的相关性.结果:两组Y402H位点基因型和等位基因频率比较差异无统计学意义.病例组中C等位基因携带者PANSS阴性症状分、一般病理分及总分均显著高于非C等位基因携带者(F=23.88,F=4.79,F=10.70;P<0.05或P<0.01);RBANS中的延时记忆分及总分显著低于非C等位基因携带者(F=8.27,F=5.51;P<0.05或P<0.01).结论:CFH基因Y402H位点多态性不是精神分裂症的易感基因,但该位点C等位基因携带者与精神分裂症阴性症状和认知功能损害有关.%Objective:To analyze the relationship between CFH gene Y402H polymorphism and schizophrenia as well as its clinical characteristics.Method:We recruited 254 schizophrenia patients with stable period and 339 healthy controls.PANSS was used to evaluate the psychotic symptoms and RBASS was used to evaluate cognitive function in patients with schizophrenia.SNaPshot technique was carried out to genotype Y402H polymorphism.Results:There were no significant differences in genotypic or allelic frequencies of the Y402H polymorphism between the case and control groups(P>0.05).In the PANSS evaluation,patients with C allele had higher scores in negative symptoms,general psychopathology and total score than those without C allele(F=23.88,F=4.79,F=10.70;P<0.05 or P<0.01).In the RBANS evaluation,patients with C allele had lower score in delayed memory than those without C allele(F=8.27,F=5.51;P<0.05 or P<0.01).Conclusion:This study does not provide evidence for CFH gene Y402H polymorphism conferring susceptibility to schizophrenia,however,suggested that this gene may contribute to the development of negative symptoms and cognitive impairment.