同胞精神分裂症与5-羟色胺2A受体基因的关联分析

目的 探讨慢性精神分裂症患者的受累同胞和散发性精神分裂症与5-羟色胺2A受体基因(5-HT2A)T102C多态性的关联。方法 先用严格的纳入标准收集共患慢性精神分裂症的同胞60对(120例)和散发性精神分裂症120例,分别与正常同胞60对(120名)和120名正常人对照,采用聚合酶链反应(PCR)扩增及MspI内切酶酶切技术,检测各组的5-HT2A受体基因的基因型和等位基因的频率分布。结果 60对共患慢性精神分裂症的受累同胞组5-HT2A受体基因A1／A1基因型频率显著高于正常同胞组(X2=5.58,P<0.05),经配对比较,患者同胞组共有A1／A1基因型也显著多于正常同胞组(X2=3.94,P<0.05),而散发性精神分裂症与正常人对照组各基因型和等位基因的构成差异均无显著性意义。结论 共患慢性精神分裂症的同胞与5-HT2A受体基因A1／A1型关联,A1／A1纯合子易患精神分裂症,散发性精神分裂症可能与5-HT2A受体基因无关联。

Association between schizophrenia and the serotonin 2A receptor gene in co-morbid siblings

Objective The present study was to investigate whether a polymorphism in the T102C region of the serotonin 2A (5-HT2A) receptor gene was associated with schizophrenia in comorbid siblings and sporadic schizophrenics. Methods Sixty pairs of siblings (120 cases) with chronic schizophrenia and 120 sporadic schizophrenics were recruited according to strict entered criteria, and 120 normal controls were recruited as well. The polymorphisms of 5-HT2A receptor gene were determined with polymerase chain reaction and restriction fragment length polymorphism (RFLP). Results The frequency of A1/A1 genotype of 5-HT2A receptor gene was significantly higher in comorbid siblings than that in normal siblings ( X2 = 5. 58, P <0. 05). Using the affected sibling pair method, A1/A1 genotype in affected siblings was higher than those in normal siblings as well ( X2 = 3. 90, P < 0. 05 ). No significant differences were found between sporadic schizophrenia and controls. Conclusion The T102C region of the 5-HT2A receptor gene may be associated with chronic schizophrenia in comorbid siblings, and ones who has homozygote of A1/A1 be more likely to suffer schizophrenia. There may be no association between 5-HT2A receptor gene and sporadic schizophrenia.