5-HT2A、5-HT6和APOE基因多态性与儿童孤独症的关联研究

目的 探讨儿童孤独症与5-羟色胺2A受体(5-HT2A)及5-羟色胺6受体(5-HT6)和载脂蛋白E(APOE)基因多态性之间的关系.方法 应用聚合酶链反应和限制性片段长度多态性技术检测符合ICD-10诊断标准的孤独症患儿(患者组)和他们的父母(对照组)的5-HT2A及5-HT6和APOE基因多态性,采用传递不平衡检验(TDT)方法进行儿童孤独症核心家系5-HT2A及5-HT6和APOE基因与孤独症的关联分析.结果 (1)孤独症组和父母对照组5-HT2A基因型频率和等位基因频率分布2组间的均差异无显著性(X2=0.849,P=0.654;X2=0.234,P=0.629);APOE基因型频率和等位基因频率分布2组间的均差异无显著性(X2=5.524,P=0.238;x2=0.312,P=0.856);5-HT6基因型频率和等位基因频率分布2组间的均差异无显著性(X2=1.423,P=0.491;X2=1.169,P=0.280).(2)传递不平衡检验(TDT)发现5-HT6发生传递不平衡,孤独症与5-HT6基因相连锁(P=0.04).结论 5-HT6基因与儿童孤独症存在关联,其周围可能存在孤独症的致病基因.

Family-based association study of 5-HT2A and 5-HT6 and APOE gene in Chinese autistic children

Objective To investigate the association between 5-HT2A,5-HT6,APOE gene and Chinese autistic children. Methods The ploymorphisms of 5-HT2A,5-HT6 ,APOE gene were detected with PCR-RFLP in parent/offspring trios where the proband met the ICD-10 autism criteria. Transmission/disequilibrium test (TDT) analysis was used in all nucleus families. Results (1) The differences of 5-HT2A,5-HT6, APOE genotypic distribution between two groups were not statistical significant (P0.05). (2) With transmission/disequilibrium test (TDT) analysis,there was a linkage association between autism and 5-HT6 gene polymorphism(P=0.04). Conclusion It showed a possibility of linkage association between autism and 5-HT6 gene, and 5-HTs may be a predisposing gene of Chinese autistic children.