精神分裂症与亲核素β基因多态性关系

Study on genetic association between the polymorphism of KPNB1,KPNB2 and schizophrenia

目的探讨亲核素β(KPNBs)中KPNB1和KPNB2基因与精神分裂症的关系。方法采用聚合酶链式反应-限制性片段长度多态性(PCR-RFLP)方法,收集中国吉林省汉族精神分裂症患者及其健康父母双亲组成的233个核心家系成员,分别检测位于KPNB1和KPNB2基因上的2个单核苷酸多态性(SNPs)rs11871606和rs266443。利用拟合优度χ2检验分析等位基因和基因型分布频率是否符合哈迪-温伯格定律(Hardy-WeinbergLaw),应用遗传统计学软件(UNPHASED)进行2个SNPs的传递不平衡检验(TDT)以及双位点联合作用分析。结果患者组与其父母组比较,KPNB1基因rs11871606及KPNB2基因rs266443等位基因和基因型频率的分布差异均无统计学意义(P>0.05),符合Hardy-Weinberg平衡定律;TDT结果提示,KPNB1基因rs11871606及KPNB2基因rs266443与精神分裂症无连锁及关联。双位点联合作用分析结果显示,rs11871606与rs266443两位点未显示联合作用(P>0.05)。结论KPNB1基因rs11871606位点及KPNB2基因rs266443位点多态性可能与精神分裂症无关,但不能排除KPNB1基因及KPNB2基因其他SNPs与精神分裂症相关联。

Objective To investigate the association between schizophrenia and the polymorphism of karyopherin beta- 1（KPNB1） and karyopherin beta-2（KPNB 2）. Methods PCR-restriction fragment length polymorphism （RFLP） was used to examine two single nucleotide polymorphisms （SNPs）of rs11871606 at the KPNB1 locus and rs266443 at the KPNB2 with 233 nuclear family trios of schizophrenia. The Hardy-Weinberg equilibrium for genotypic distribution was esti- mated by the goodness-of-fit test. The UNPHASED program was applied to perform the transmission disequilibrium test （TDT） and the combined effect analysis of the paired SNPs. ResuIts The genotype frequency distributions of two SNPs were in accordance with the Hardy-Weinberg equilibrium. The results of TDT indicated that the allelic frequency transmitted from the heterozygote parents did not deviate from 50%. The results of the combined effect analysis showed that rsl 1871606-rs266443 was not associated with schizophrenia. Conclusion As far as Chinese Hart schizophrenia concerned in this paper, we may not be assured the association between the polymorphism of KPNB1 or KPNB2 and schizophrenia.