【摘要】 目的:探讨多巴胺D₂受体基因（DRD2）多态性与精神分裂症及精神分裂症吸烟行为的关联。方法:选取符合美国精神障碍诊断与统计手册第4版（DSM-IV）精神分裂症诊断标准的男性精神分裂症患者773例（吸烟组567例,非吸烟组206例）,男性正常对照302例（吸烟组168例,非吸烟组134例）。选取DRD2的rs1800497和rs1079597单核苷酸多态性（SNP）位点为候选基因位点。采用聚合酶链式反应-限制性片断长度多态性（PCR-RFLP）方法,利用SHEsis遗传分析平台（http:∥analysis.biox.cn/my Analysis.php）分析精神分裂症组与对照组及吸烟与非吸烟候选基因位点基因型与等位基因分布频率。结果:两个SNPs的等位基因和基因型频率分布在精神分裂症组与对照组、精神分裂症的吸烟与非吸烟组、对照组的吸烟与非吸烟组间的差异均无统计学意义（均P>0.05）;由两个SNPs组成的C-A和T-G单体型在精神分裂症组中的估计频率高于对照组（8.0%vs.5.2%、10.2%vs.4.1%,均P<0.05）,T-A（34.6%vs 40.2%,P<0.05）单体型在精神分裂症组中的估计频率低于对照组;由两个SNPs组成的T-A单体型在正常对照吸烟组中的估计频率低于非吸烟组（2.5%vs.6.1%,P<0.05）。结论:DRD2多态性与精神分裂症的易感性可能存在关联,而与精神分裂症患者或正常人吸烟行为的形成可能无关。更多还原

【Abstract】 Objective: To investigate the association between dopamine receptor D₂（ DRD2） polymorphisms and smoking in male patients with schizophrenia.Methods: Totally 773 patients with schizophrenia（ 567 smokers and 206 non-smokers） and 302 normal controls（ 168 smokers and 134 non-smokers） were recruited.The two single nucleotide polymorphisms（ SNPs）（ rs1800497 and rs1079597） were genotyped by polymerase chain reaction-restriction fragment length polymorphism（ PCR-RELP）.SHEsis genetic analysis platform was used to calculate linkage disequilibrium index and infer allele distribution and haplotype frequency.Results: There was no significant difference in two SNPs genotype and allele distributions between the patients and normal controls or between smokers and non-smokers in either patients or normal controls alone（ Ps > 0.05）; the frequency estimations of haplotype C-A and T-G in patients with schizophrenia were higher than in normal controls（ 8.0% vs.5.2%, 10.2%vs.4.1%,Ps < 0.05）,T-A（ 34.6% vs.40.2%,P < 0.05）,whereas the frequency estimation of haplotype T-A in patients with schizophrenia was lower than in normal controls,and all the differences were statistically significant（ 34.6% vs.40.2%,P < 0.05）.It was also observed that the frequency estimation of haplotype T-A in normal smokers was significantly lower than in normal non-smokers（ 2.5% vs.6.1%,P < 0.05）.Conclusion: There may be a correlation between DRD2 polymorphisms and the susceptibility to schizophrenia,but not between DRD2 polymorphisms and smoking neither in patients with schizophrenia nor in normal controls.更多还原