KPNA1基因多态性与精神分裂症的关系

Association between KPNA1 gene polymorphism and schizophrenia

目的:探讨中国北方汉族人群中KPNA1基因上rs3762637位点单核苷酸多态性(SNP)与精神分裂症的关系。方法:采用PCR技术和限制性内切酶片段长度多态性(RFLP)的方法,检测101个精神分裂症核心家系(包括患者、父母)的基因型。结果:rs3762637基因型频率的分布符合Hardy-Weinberg平衡(χ2=1.431,df=1,P=0.232;χ2=1.212,df=1,P=0.271);等位基因和基因型的频数分布在父母组和患者组中的差异均无显著性(2χ=0.957,P=0.328;χ2=3.547,P=0.170);传递不平衡检验(TDT)显示,杂合父母传递给患病子女与未传递等位基因频数分布差异无显著性(χ2=1.469,P=0.225)。结论:KPNA1基因上的rs3762637位点可能不是精神分裂症的易感位点。

Objective To investigate the association between single nucleotide polymorphism of rs3762637 locus on KPNA1 gene and schizophrenia in the Northern Han Chinese. Methods The method of PCR-RFLP was conducted to examine the genotypes of KPNA1 gene in 101 core family （including patients and their parents ）, and then the genotypic and allelic frequencies of KPNA1 gene were statistically computed. Results The χ^2 goodness-fit test showed that the genotypic distributions of rs3762637 were not deviated from Hardy-Weinberg equilibrium either in the patient sample （χ^2 =1. 431, df=1, P=0. 232 ） or in the parent group （ χ^2 = 1. 212, df= 1, P=0. 271 ）. There were no remarkable differences of the allelic and genotypic frequency distributions of KPNA1 between parents and patients （χ^2=0. 957, P=0. 328;χ^2=3. 547, P=0. 170 ）. Transmission disequilibrium test （ TDT ） did not show significant biased transmission from parents to affected offspring （χ^2= 1. 469, P=0. 225）. Conclusion The rs3762637 locus on KPNA1 gene may be not the susceptible locus of schizophrenia.