PAX6基因多态性与精神分裂症的关系探讨

目的探讨PAX6基因多态性与精神分裂症的关系。方法选取270例首发精神分裂症患者（患者组）与320例健康志愿者（对照组），采用阳性与阴性症状量表（PANSS）评定精神分裂症临床症状；通过检索数据库HapMap，在PAX6基因3’非翻译区（3’-UTR）选取两个标签单核苷酸多态性（SNP）rs3026401、rsl506位点，采用DNA基因组提取试剂盒提取DNA及进行连接酶检测反应（LDR）以测定SNP。采取病例对照研究方法比较两组间SNPrs3026401、rsl506位点基因型和等位基因分布频率。结果患者组（n=262）与对照组（n=318）的SNPrsl506基因型、等位基因分布频率差异无统计学意义；SNPrs3026401基因型、等位基因分布频率组间差异有统计学意义（P均〈0．05）。患者组SNPrs3026401不同基因型的阴性症状评分差异有统计学意义，即GG〉AA、GG〉AG（P均〈0．05）；阳性症状评分、一般精神病理因子评分差异无统计学意义。结论PAX6基因rs3026401多态性可能是精神分裂症的危险因素之一。

Association between PAX6 gene polymorphism and schizophrenia

Objective To investigate the association between the PAX6 gene polymorphism and schizophrenia. Meth- ods The study included 320 healthy controls （ control group） and 270 patients with schizophrenia （ schizophrenia group）. The positive and negative syndrome scale （PANSS） was assessed before the treatment. By searching data on the HapMap database, we selected the Tag SNP rs3026401, rs1506 sites in the 3＇ untranslated region （3＇-UTR） of PAX6 gene. DNA extraction kit was used for DNA extraction and ligase detection reaction （LDR） was used for SNP determination. Taking a case-control study to compare the genotype and allele frequencies of m3026401 and rs1506. Results After data analysis, the genotypic and allelic distribution of SNP rs1506 had no relationship with schizophrenia, while the SNP rs3026401 geno- type and allele frequencies between the schizophrenia and control groups were significant difference （ all P 〈 0.05 ）. Then we compared the relationship between genotype of rs3026401 and clinical symptoms. The positive symptom scores and gen- eral psychopathology factor scores were not significantly different in the SNP rs3026401 genotype of patients, while the neg- ative symptom scores in patients with different genotypes were significantly different, that was GG 〉 AG and GG 〉 AA （ all P 〈 0.05）. Conclusion The rs3026401 polymorphism of PAX6 gene may be one of the risk factors for schizophrenia.