摘要
目的探讨PAX6基因rs667773、rs3026354位点多态性与精神分裂症的发病机制及相关临床症状之间的关系。方法选取262例精神分裂症患者(患者组)与318名健康志愿者(对照组),检索HapMap数据库,在PAX6基因的3'非翻译区选2个标签单核苷酸多态性(SNPs) rs667773、rs3026354位点;全血提取DNA进行连接酶检测反应(LDR)测定SNPs;使用阳性和阴性综合征量表(PANSS)评定精神分裂症患者临床症状;比较两组2个位点基因型和等位基因分布频率,判断其与精神分裂症关联性。结果两组的rs667773基因型及等位基因的分布频率比较差异无统计学意义(P> 0. 05),两组rs3026354基因型及等位基因的分布频率比较差异有统计学意义(P <0. 05);两组单体型rs3026354C/rs667773T,rs3026354T/rs667773T频率比较差异有统计学意义(P <0. 05)。患者组SNP 3026354不同基因型的PANSS阴性症状评分比较差异有统计学意义(P <0. 05),其中TT> CC,TT> CT(P <0. 05)。结论 PAX6基因的rs3026354位点多态性在中国北方汉族人中可能是精神分裂症疾病的高危因素之一,它影响首发精神分裂症患者的临床精神症状,尤其是阴性症状。
Objective To investigate the relationship between PAX6 gene rs667773 and rs3026354 polymorphisms and the pathogenesis, related clinical symptoms of schizophrenia. Methods 262 patients with schizophrenia （patient group） and 318 healthy volunteers （control group） were selected and two single nueleotide polymorphisms （SNPs） ,rs667773 and rs3026354, in the 3＇ untranslated region of the PAX6 gene were selected through searching HapMap database. Whole blood DNA was extracted for ligase detection reaction （LDR） determination of SNPs and patients with schizophrenia were assessed with Positive and Negative Symptom Scale （PANSS）. The frequencies of genotypes and alleles at 2 loci between two groups were compared and to judge its relevance to schizophrenia. Results There was no significant difference in the frequencies of SNP rs667773 genotypes and alleles between two groups（ P 〉 0.05 ）. The frequencies of genotypes and alleles of SNP rs3026354 were significantly different between two groups （P 〈 0.05）. There existed significant differences in frequencies of rs3026354C/rs667773T, rs3026354T/ rs667773T between two groups （P 〈 0.05）. In patient group, the factor scores of negative symptom in PANSS of different genotypes in patients with SNP 3026354 were significantly different （ P 〈 0.05 ）, among them, TT 〉 CC, TT 〉 CT （ P 〈 0.05 ）. Conclusion The rs3026354 polymorphism of PAX6 gene may be one of the high risk factors for schizophrenia in Han Chinese in northern China, which affects the clinical psychiatric symptoms of patients with first-episode schizophrenia, especially negative symptoms.
作者
丁玉
杨建立
韩海斌
DING Yu;YANG Jianli;HAN Haibin(Tianjin Anding Hospital,Tianjin 300222,China)
出处
《精神医学杂志》
2018年第3期205-208,共4页
Journal of Psychiatry
基金
天津市卫生局科技基金重点项目(编号:06KR04)
