【摘要】 目的:探讨G-蛋白信号转导调节子4(regulator of G-protein signaling-4,RGS4)基因与精神分裂症及临床症状的遗传关联。方法:应用病例对照关联研究设计,采用聚合酶链式反应-限制性片断长度多态性(PCR-RFLP)和DNA测序方法,分析386例精神分裂症患者和390例正常对照者中RGS4基因4个单核苷酸多态性(SNP)位点与精神分裂症的关联。并采用阳性和阴性症状量表(PANSS)评估患者的临床症状,进一步分析PANSS因子分与RGS4多态性的关联。结果:RGS4基因的两个多态性位点rs12753561(T>G,χ2=8.970,P=0.002)和rs10759(C>A,χ2=13.773,F=0.002,P=0.002)与精神分裂症关联,由上述4个SNPs组成的多个单体型如AAGA(χ2=11.120,P=0.0008,OR=0.52,95%CI=0.36-0.77)和GGGC(χ2=10.096,P=0.001,OR=1.43,95%CI=1.15~1.79)均与精神分裂症关联。PANSS量表的阴性症状因子分与rs12753561(t=2.216,P=0.029)和rs10759(t=2.543,P=0.012)关联。结论:RGS4基因多态性与精神分裂症及阴性和一般精神病理症状显著关联。更多还原

【Abstract】 Objective:To explore the association of the regulator of G-protein signaling 4 (RGS4) polymorphisms with schizophrenia.Methods: Four single nucleotide polymorphisms (SNPs) of RGS4 gene were analyzed in a sample of 386 schizophrenic patients and 390 healthy controls, using the polymerase chain reaction-based restriction fragment length polymorphism (PCR-RFLP) genotyping or DNA sequencing.Results:SNP rs12753561(T>G,χ2=8.970,P=0.002) and rs10759 of RGS4 gene were significantly associated with schizophrenia (C>A,χ2=13.773,P=0.002). When constructed with two, three and four markers, a number of haplotypes were significantly associated with schizophrenia, such as AAGA(χ2=11.120,P=0.0008,OR=0.52,95%CI=0.36-0.77)and GGGC(χ2=10.096,P=0.001,OR=1.43,95%CI=1.15~1.79). When the subjects examined with the positive and negative syndrome scale (PANSS), above two SNPs were associated with the negative syndrome (P=0.029、0.012). Conclusion: These results further contribute to the evidence that variations in the RGS4 gene have an effect on schizophrenia susceptibility.更多还原