α7烟碱乙酰胆碱受体基因与精神分裂症及吸烟行为的关系  

Association study of a7 nicotinic acetylcholine receptor subunit gene with schizophrenia and smoking

作　　者：李彩霞[1] 王强[1] 邓伟[1] 马小红[1] 王英成[1] 刘协和[1] 李涛[1] 

机构地区：[1]四川大学华西医院心理卫生中心,成都610041

出　　处：《中华精神科杂志》2011年第2期75-78,共4页Chinese Journal of Psychiatry

基　　金：国家自然科学基金资助项目（30530300,30971056）;国家科技部“973”项目（2007CB512301）

摘　　要：目的探讨a7烟碱样乙酰胆碱受体（nAchR）基因多态性与精神分裂症及吸烟行为的关系。方法连续收集符合美国精神障碍诊断与统计手册第4版（DSM-Ⅳ）诊断标准的精神分裂症患者221例（患者组）和患者亲属432名（亲属组），评定患者吸烟情况；采用聚合酶链反应和限制性酶切技术，检测a7nAchR基因的rs1355920单核苷酸多态性（sNP）和D15S1360微卫星多态性2个位点，对其基因型和等位基因与精神分裂症发病以及吸烟行为的关系进行传递不平衡检验和单倍型分析。结果患者组从亲代接受到SNPrs1355920位点等位基因A的几率增加（Z=2．56，P=0．010）、接受到等位基因G的几率减少（Z=-2．70，P=0．007），SNPrs1355920与精神分裂症的发病有关（总体X^2值=6．910，总体P值=0．008），微卫星多态性位点D15S1360与精神分裂症发病无关（总体）（2值=1．331，总体P值=0．514），2个位点单倍型与精神分裂症发病有关（总体X2值=6．991，总体P值=0．030）；吸烟组与不吸烟组在rs1355920和D15S1360多态性位点的基因型和等位基因的差异均无统计学意义（P〉0．05）。结论a7nAchR基因可能与精神分裂症的发病存在关联，可能与吸烟行为不存在关联。Objective To investigate the associations of two polymorphisms in a7 nicotinic aeetylcholine receptor subunit gene （a7 nAchR ） with schizophrenia and smoking. Methods Eligible patients with schizophrenia （n = 221 ） according to the Diagnostic and Statistical Manual of Mental Disorders Fourth Edition （DSM-IV） and their healthy relatives （n = 432） were continuously recruited. Smoking data were collected in the patients. Two polymorphisms （rs1355920 and D15S1360） of a7 nAchR gene were genotyped using PCR-RFLP. Associations of the polymorphisms with schizophrenia and smoking were analyzed using transmission disequilibrium tests （TDT） and haplotype analysis. Results The odds of patient group received from parents allele A of SNP rs1355920 was increased （Z =2.56, P =0.010）, and the odds of received allele G was decreased （Z = - 2.70, P = 0. 007）. The allele A of rs1355920 was more common in the patients than in the relatives （X2 = 6. 910,P = 0. 008）. The frequencies of D15S1360 were not significantly different between patients and relatives （ X2 = l. 331 ,P = 0. 514）. The haplotypes of the two locus were related to schizophrenia （X2 = 6. 991, P = 0. 030）. In addition, all these alleles or genotype frequencies of rs1355920 and D15S1360 did not differ significantly between smokers and non-smokers （P 〉 0. 05）. Conclusion The a7 nAchR gene may be associated with schizophrenia, but not with smoking.

关 键 词：精神分裂症 吸烟 基因 受体 烟碱 

分 类 号：R749.3[医药卫生—神经病学与精神病学]