精神分裂症断裂基因1(DISC1)多态性与精神分裂症的关联研究  

Association Study of the Disrupted in Schizophrenia 1(DISC1)Gene Polymorphisms with Schizophrenia

作　　者：孙伟[1] 闫俊[1] 王力芳[1] 曲梅[1] 阮燕燕[1] 卢天兰[1] 岳伟华[1] 张岱[1] 

机构地区：[1]北京大学精神卫生研究所,卫生部精神卫生学重点实验室(北京大学),北京100191

出　　处：《中国心理卫生杂志》2009年第8期590-594,共5页Chinese Mental Health Journal

基　　金：国家自然科学基金(30530290;30870896)

摘　　要：目的:探讨精神分裂症断裂基因1(DISC1)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)方法:分析466例精神分裂症患者和551例正常对照者DISC1基因2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DISC1多态性的关联。结果:DISC1基因的两个多态性位点rs821597(等位基因A>G,χ2=6.009,P=0.014;基因型:χ2=6.505,P=0.039)和rs821616(等位基因A>T,χ2=7.063,P=0.008;基因型:χ2=6.928,P=0.031)均与精神分裂症显著关联。由上述2个SNPs组成的多个单体型均与精神分裂症关联[如AT(χ2=7.065,P=0.008,OR=1.42,95%CI=1.10～1.83)和GA(χ2=6.009,P=0.014,OR=0.80,95%CI=0.68～0.96)]。上述2个SNPs组成的风险单体型AT间PANSS量表各因子分差异均无统计学意义(均P>0.05)。结论:DISC1基因多态性与精神分裂症显著关联,但与精神分裂症症状无关联。Objective： To explore the association of the disrupted in schizophrenia 1 （DISC1） gene polymorphisms with schizophrenia Methods： Two single nucleotide polymorphisms （ SNPs ） of DISC1 gene were analyzed in a sample of 466 schizophrenic patients and 551 healthy conlxols, using the polymerase chain reaction-based restriction fragment length polymorphism （PCR-RFLP） genotyping. Results： SNP rs821597 （A 〉 G, P = 0.014; Genotype： P=0. 039）and rs821616 （A 〉 T, P =0.008; Genotype： P =0.031 ） of DISC1 gene were significantly associated with schizophrenia The haplotypes constructed by these two markers were significantly associated with schizophrenia, such as AT （ X^2 = 7. 065, P = 0. 008, OR = 1.42, 95% CI = 1.10 - 1.83 ） and GA （ X^2 =6. 009, P =0. 014, OR =0. 80, 95%CI =0. 68 -0. 96） . When the subjects examined with the positive and negative syndrome scale （PANSS）, the risk haplotype AT was not significantly correlated with positive, negative, excitement, depression and cognitive impairment factors of PANSS. Conclusion： These fmdings provide further evidence for DISC1 as a predisposing gene involved in schizophrenia in the Chinese Han Population. However, no positive association is found between DISC1 polymorphisms with schizophrenia clinical symptoms.

关 键 词：精神分裂症 精神分裂症断裂基因1 关联研究 

分 类 号：R749.3[医药卫生—神经病学与精神病学]