【摘要】 目的探讨中国北方汉族人群磷脂酶A2,IVC亚组基因(PLA2G4C基因)多态性与精神分裂症的遗传关联性。方法采用PCR和连接酶检测反应(LDR)法,在201个精神分裂症患者核心家系中检测PLA2G4C基因上的3个单核苷酸多态性(SNPs)(rs2307279、rs2162886和rs891014),对结果进行单倍型相对风险分析(HRR)、传递不平衡分析(TDT)和与临床症状的关联性分析。结果各位点在精神分裂症病例组和对照组中基因型分布均符合Hardy-Weinberg平衡。HRR和TDT分析表明,检测的3个SNPs位点与精神分裂症关联差异无统计学意义。临床症状关联性分析结果显示,rs2307279等位基因多态性与阳性症状自责自罪妄想相关联(χ2=5.755,P=0.016),rs2162886和rs891014等位基因多态性与思维逻辑性障碍和病前人格相关联(χ2=6.777,P=0.009;χ2=11.113,P=0.001;χ2=12.468,P=0.002;χ2=9.924,P=0.007);rs2162886等位基因多态性与阳性症状怪异行为相关联(χ2=5.409,P=0.020)。结论PLA2G4C基因多态性与精神分裂症阳性临床症状相关联。更多还原

【Abstract】 Objective To investigate the genetic association between PLA2G4C gene polymorphism and schizophrenia in the north Han Chinese.Methods The method of PCR-based ligase detection reaction(PCR-LDR) was applied to genotype 3 single nucleotide polymorphisms(SNPs) of PLA2G4C gene among 201 pedigrees consisting of father,mother and affected offsprings with schizophrenia.Haplotype relative risk test(HRR),transmission disequilibrium test(TDT) and clinical symptom analysis were conducted to analyze the genotyping data.Results The genotypic frequency of PLA2G4C gene did not deviate from Hardy-Weinberg equilibrium in both case and control groups.HRR and TDT showed that the 3 SNPs were not associated with schizophrenia(P>0.05).Analysis for clinical symptoms association showed that Rs2307279 was associated with delusion of sin(χ2=5.755,P=0.016).rs2162886 and rs891014 were associated with illogic of thinking and the character before illness(χ2=6.777,P=0.009;χ2=11.113,P=0.001;χ2=12.468,P=0.002;χ2=9.924,P=0.007).Rs2162886 was associated with monstrous behavior(χ2=5.409,P=0.020).Conclusion PLA2G4C gene polymorphism is associated with clinical positive symptoms of schizophrenia.更多还原