APOL3和APOL1基因多态性与精神分裂症的关系

J4 ›› 2012, Vol. 38 ›› Issue (5): 969-972.

APOL3和APOL1基因多态性与精神分裂症的关系

王树越¹|周丽婷²|郑东春²|史杰萍³|叶琳²

1. 吉林大学中日联谊医院急诊科|吉林长春 130033；2. 吉林大学公共卫生学院劳动卫生与环境卫生学教研室|吉林长春130021；3. 吉林大学公共卫生学院流行病与卫生统计学教研室|吉林长春130021

收稿日期:2012-06-17 出版日期:2012-09-28 发布日期:2012-09-28
通讯作者: 叶琳（Tel：0431-85619453，E-mail：jlyelin@163.com） E-mail:jlyelin@163.com
作者简介:王树越（1969-）|女|吉林省长春市人|主管护师|本科|主要从事精神分裂症基础与临床研究。
基金资助:
国家自然科学基金资助课题（30170343）

Association between APOL3 and APOL1 gene polymorphism and schizophrenia

WANG Shu-yue¹, ZHOU Li-ting², ZHENG Dong-chun², SHI Jie-ping³, YE Lin²

1.Department of Emergency, China-Japan Union Hospital, Jilin University, Changchun 130033,China；
2. Department of Labor Hygiene and Environmental Hygiene, School of Public Health, Jilin University, Changchun 130021, China；3.Department of Epidemiology and Health Statistics, School of Public Health, Jilin University, Changchun 130021, China

Received:2012-06-17 Online:2012-09-28 Published:2012-09-28

摘要/Abstract

摘要：

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。

关键词: 精神分裂症/遗传学；单核苷酸多态性；APOL3；APOL1

Abstract:

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.


Key words: schizophrenia/genetics, single nucleotide polymorphism, APOL3, APOL1

中图分类号:

R749.3

王树越|周丽婷|郑东春|史杰萍|叶琳. APOL3和APOL1基因多态性与精神分裂症的关系[J]. J4, 2012, 38(5): 969-972.

WANG Shu-yue, ZHOU Li-ting, ZHENG Dong-chun, SHI Jie-ping, YE Lin. Association between APOL3 and APOL1 gene polymorphism and schizophrenia[J]. J4, 2012, 38(5): 969-972.

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