α7-烟碱样乙酰胆碱受体基因多态性与精神分裂症的关联研究

目的 研究α7-烟碱样乙酰胆碱受体基因rs1042724,rs384470多态性与精神分裂症的相关性.方法 运用聚合酶链反应扩增及单核苷酸多态性的分子生物学技术,对符合精神分裂症诊断标准的98个先证者及其父母组成的核心家系,测定α7-烟碱样乙酰胆碱受体基因分型,进行精神分裂症的α7-烟碱样乙酰胆碱受体基因多态性的关联分析和传递不平衡(TDT)检验.结果 TDT检验结果提示α7-烟碱样乙酰胆碱受体基因等位基因与精神分裂症之间的相关性(McNemar 2 = 4.21,P＜0.05),且等位基因T携带者,其精神分裂症的易患性是C携带者的1.31倍(RR=1.31,2 (RR)=3.96,P＜0.05);rs384470位点与精神分裂症不存在关联(McNemar 2 =2.34,P＞0.05).结论 提示α7-烟碱样乙酰胆碱受体基因rs1042724与精神分裂症相关联.

The association between schizophrenia and the nicotine-like acetylcholinergic receptor gene polymorphism

Objective To detect the genetic association between schizophrenia and rs1042724,rs384470 polymorphism at nucleotide of the nicotine-like acetylcholinergic receptor gene. Methods Observed in a sample of 98 parent/offspring trios where the proband net the American Classification and diagnostic Criteria for Mental Disorders. The Forth Revised Edition, criteria for schizophrenia using transmission/disequilibrium test(TDT) analysis. The polymorphism of nicotine-like acetylcholinergic receptor gene was detected with PCR methods and SNP typing in all nucleus families. Results Using a family-based association design we obtained evidence of an association between schizophrenia and allele of the rs1042724 polymorphism in the nicotine-like acetylcholinergic receptor gene(RR=1.31,2 (RR)=3.96,P＜0.05). Moreover the fact that transmission disequilibrium was observed when one affected offspring was selected at random from each family, suggesting that the results are due to association(McNemar 2 = 4.21,P＜0.05). There is no association between schizophrenia and rs1042724 polymorphism in the nicotine-like acetylcholinergic receptor gene (McNemar 2 =2.34,P＞0.05). Conclusion It shows an association between schizophrenia and the rs1042724 polymorphism at nucleotide of the nicotine-like acetylcholinergic receptor gene in Chinese.