KPNB3基因多态性与精神分裂症的关系

目的：证实中国人群KPNB3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，检测中国汉族精神分裂症患者和其健康父母双亲的组成的304个核心家系成员位于KPNB3基因上的2个单核苷酸多态性 （SNPs）rs2588014和rs626716。利用拟合优度χ²检验分析基因型分布频率是否符合Hardy-Weinberg平衡定律，应用UNPHASED软件包进行2个SNPs的传递不平衡检验（TDT）、单倍型分析和连锁不平衡程度的测量。结果：rs626716和rs2588014等位基因和基因型频率分布，患者组和其父母组比较差异均无显著性，符合Hardy-Weinberg平衡定律(P>0.05)。 传递不平衡检验（TDT）结果显示，rs626716位点杂合子父母传递给患病子女的等位基因存在传递不平衡性（χ²=9.31，P =0.002 3）；rs2588014位点杂合子父母的2个不同等位基因传递给患病子女的致病等位基因概率未偏离50% (χ²=3.44，P=0.064)。单倍型分析显示，在患病子女中rs2588104(C)- rs626716(C) 单倍型传递与未传递的频率分布比较差异有显著性（χ²=9.8，P =0.006 8）。结论： 在中国北方汉族人群中，KPNB3基因多态性可能与精神分裂症的发生有关。

Association between KPNB3 gene polymorphism and schizophrenia

Objective To reconfirm the association between KPNB3 gene polymorphism with schizophrenia in Chinese population.Methods Two single nucleotide polymorphisms(SNPs),rs2588014 and rs626716 at the KPNB3 locus,were detected in 304 Chinese Han family trios consisting of fathers,mothers and affected offsprings with schizophrenia with PCR-based restriction fragment length polymorphism(RFLP) analysis.The Hardy-Weinberg equilibrium for genotypic distribution was estimated by the goodness-of-fit test.The UNPHASED program was applied to perform the transmission disequilibrium test(TDT),the haplotype analysis and the pair-wise measure of linkage disequilibrium(LD) between these 2 SNPs.Results The genotypic distribution of both rs2588014 and rs626716 was not deviated from the Hardy-Weinberg equilibrium(P>0.05).The TDT showed significantly biased transmission from parents to affected offsprings for rs626716(χ2=9.31,P=0.002 3).The allelic frequency transmitted from the heterozygote parents didn't deviate for 50% at rs2588014(χ2=3.44,P=0.064).The haplotype analysis also showed rs2588104(c)-rs626716(c) was transmitted by parents(χ2=9.8,P=0.006 8).Conclusion There may be genetic association between KPNB3 gene polymorphism and schizophrenia in the Han descent population in the north of China.