吉林大学学报(医学版)

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MYO9B基因多态性与中国北方汉族人群精神分裂症发病及其临床表型的关联性分析

王嘉欣1,刘扬2,王珍琦2,惠李2,赵鑫丽1,赵晓霞1,杜伟利2,3,武宁2,4,张萱1   

  1. 1.吉林大学第二医院肾病内科,吉林 长春 130041;2.吉林大学公共卫生学院基因组医学研究中心,吉林 长春 130021;3.北京市通州区卫生局卫生监督所,北京 101100;4.吉林大学中日联谊医院放疗科,吉林 长春 130033
  • 收稿日期:2013-09-12 出版日期:2014-03-28 发布日期:2014-05-28
  • 通讯作者: 张 萱(Tel: 0431- 88796730,E-mail: zhangxuan@jlu.edu.cn) E-mail:zhangxuan@jlu.edu.cn
  • 作者简介:王嘉欣(1985-),女,吉林省长春市人,在读医学博士,主要从事人类重大疾病发病学研究。
  • 基金资助:

    国家自然科学基金资助课题(30700257);教育部新世纪优秀人才支持计划资助课题(NCET-10-0449);教育部博士点基金资助课题(20120061110072);吉林大学白求恩计划B资助课题(2012228)

Association between  MYO9B gene polymorphisms and schizophrenia and its clinical phenotypes in North Chinese Han population

WANG Jia-xin1,LIU Yang2,WANG Zhen-qi2,HUI Li2,ZHAO Xin-li1,ZHAO Xiao-xia1,DU Wei-li2,3,WU Ning2,4,ZHANG Xuan1   

  1. 1. Department of Nephrology,Second Hospital,Jilin University,Changchun 130041,China;2. Research Center for Genomic Medicine,School of Public Health,Jilin University,Changchun 130021,China;3.Institute of  Health Supervision,Tongzhou District, Beijing City,Beijing 101100,China; 4. Department of Radiotherapy,China-Japan Union Hospital,Jilin University,Changchun 130033,China
  • Received:2013-09-12 Online:2014-03-28 Published:2014-05-28

摘要:

目的:探讨肌球蛋白9B(MYO9B)基因多态性与中国北方汉族人群精神分裂症发病及其临床表型的关系,阐明精神分裂症发病的遗传学机制。方法:收集了427例中国北方汉族人群精神分裂症患者与439名健康对照者全血样品,提取基因组DNA,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MYO9B基因rs2279007、rs8113494和rs1545620位点基因型和等位基因型。应用拟合优度χ2检验分析精神分裂症病例组和健康对照组研究对象各单核苷酸多态性(SNPs)位点的基因型频数分布是否符合Hardy-Weinberg平衡定律,各SNPs位点等位基因和基因型频数与精神分裂症及各种临床表型的关联性分析采用χ2检验。结果:病例组MYO9B基因各SNP位点等位基因、基因型频数分布与对照组比较差异无统计学意义(P>0.05);临床表型分析,rs2279007位点基因型频数与幻觉妄想综合征有关联(χ2=4.160,P=0.041);rs1545620位点基因型频数与意志缺乏有关联(χ2=10.768,P=0.013)。结论:MYO9B基因多态性与中国北方汉族人群精神分裂症发病无关联,但可能与精神分裂症患者幻觉妄想综合征和意志缺乏的临床表型有关联。

关键词: 精神分裂症/遗传学, 表型, 多态性, 单核苷酸, 肌球蛋白9B基因, rs2279007, rs8113494, rs1545620

Abstract:

Abstract:Objective To investigate the association between myosin ⅨB (MYO9B) gene polymorphisms and schizophrenia and its clinical phenotypes in the North Chinese Han population,and to clarify the genetics mechanism of occurrence of schizophrenia. Methods Genomic DNA was isolated from the whole blood samples in  427 patients with schizophrenia and 439 ethnicity-matched healthy controls.The PCR-based restriction fragment length polymorphism (PCR-RFLP) method was used to examine the genotypes and alleles of the rs2279007,rs8113494, and rs1545620 sites at MYO9B gene.The Hardy-Weinberg equilibrium for the  genotypic distribution of rs2279007,rs8113494, and rs1545620 in the schizophrenia patients and the controls was estimated by the goodness-of-fit χ2 test,and the association between the allelic and genotypic frequencies of single nucleotide polymorphisms(SNPs) sites at MYO9B gene and schizophrenia and its clinical phenotypes was analyzed by χ2 test.Results There were no significant differences of the allelic  and genotipic frequencies of MYO9B gene between the  schizophrenia patients and the controls(P>0.05).Phenotypic analysis suggested that the genotipic frequency of   rs2279007  site was associated with Hallucination-delusion syndrome (χ2=4.160,P=0.041) and the genotipic frequency of rs1545620 site was associated with aboulia (χ2=10.768,P=0.013) in schizophrenic patients.Conclusion MYO9B gene may  be not involved in the occurrence  of schizophrenia,but may be associated with Hallucination-delusion syndrome and aboulia of schizophrenia in the North Chinese Han population.

Key words: schizophrenia/ genetics, phenotype, polymorphism,single nucleotide, myosin 9B

中图分类号: 

  • Q75