APOL3和APOL1基因多态性与精神分裂症的关系

目的：探讨APOL基因家族APOL3和APOL1基因多态性与精神分裂症的关系，为精神分裂症的病因学研究奠定基础。方法：以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97个核心家系成员为研究对象，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APOL3基因rs132630位点和APOL1基因rs2239785位点的单核苷酸多态性（SNPs）。利用拟合优度χ2检验分析等位基因和基因型频数分布是否符合Hardy-Weinberg平衡定律；应用UNPHASED软件进行单体型相对风险分析（HRR）和传递不平衡检验（TDT）。结果：APOL3基因rs132630位点和APOL1基因rs2239785位点基因型在患者组及其父母组中频数分布均符合Hardy-Weinberg平衡定律；HRR分析结果显示，rs132630和rs2239785位点等位基因在患者组和父母组的频数分布比较差异均无统计学意义（P>0.05）；TDD分析结果显示，rs132630和rs2239785位点杂合子父母双亲传递给患病子女的2个不同等位基因概率均未偏离50%（P>0.05）。结论：APOL3基因上的rs132630位点和APOL1基因上的rs2239785位点多态性可能与精神分裂症无关联。

Association between APOL3 and APOL1 gene polymorphism and schizophrenia

Objective To explore the association between APOL3 and APOL1 gene polymorphisms in APOL gene family and schizophrenia,and to lay a foundation for etiology research on schizophrenia.Methods 97 families composed with schizophrenia patients who were Han nationality and their healthy parents in Jilin Province from China were chosen.The single nucleotide polymorphism(SNPs) of rs132630 and rs2239785 sites of APOL3 and APOL1 gene were detected by polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP) assay.The allelic and genotypic frequencies fit Hardy-Weinberg Law were detected by goodness of fit χ2 test analysis;the relative risk of the haplotypes(HRR) and transmission disequilibrium test(TDT) were detected by UNPHASED software.Results The distribution of genotypic frequencies of rs132630 and rs2239785 did not deviate from Hardy-Weinberg equilibrium in both patient and parent groups(P>0.05).The HRR test showed there were no significant differences of allelic frequencies of rs132630 and rs2239785 between patient and parent groups(P>0.05).The TDT showed the alleles of rs132630 and rs2239785 transmitted from heterozygotic parents to affected offsprings did not bias from 50%(P>0.05).Conclusion The polymorphism of rs132630 at APOL3 gene and rs2239785 at APOL1 gene may not be associated with schizophrenia.