上海交通大学学报（医学版）

上海交通大学学报（医学版） ›› 2017, Vol. 37 ›› Issue (7): 891-.doi: 10.3969/j.issn.1674-8115.2017.07.002

• 论著（基础研究） • 上一篇    下一篇

中国汉族人群补体因子H的基因多态性与精神分裂症的关联研究

耿瑞杰，鲍晨曦，陆燕华，程小燕，朱明环，贾思，赵静，张晨，吕钦谕 #，易正辉 #   

  1. 上海交通大学 医学院附属精神卫生中心，上海 200030
  • 出版日期:2017-07-28 发布日期:2017-08-25
  • 通讯作者: 吕钦谕，电子信箱：lvqinyu_louis@163.com。易正辉，电子信箱：yizhenghui1971@163.com。# 为共同通信作者
  • 作者简介:耿瑞杰（1992—），女，硕士生；电子信箱：grj315@163.com
  • 基金资助:
    国家自然科学基金（81671326）；国家重点研发计划“精准医学研究”重点专项（2016YFC0906402)；上海市科学技术委员会科研计划项目 （17411970000）；中央高校基本科研业务费专项（16JXRZ06）；上海市精神卫生中心院级国际合作项目（2015-YJGJ-03）

Association study of CFH gene polymorphisms with schizophrenia in Chinese Han population

GENG Rui-jie, BAO Chen-xi, LU Yan-hua, CHENG Xiao-yan, ZHU Ming-huan, JIA Si, ZHAO Jing, ZHANG Chen, LÜ Qin-yu#, YI Zheng-hui#   

  1. Shanghai Mental Health Center, Shanghai Jiao Tong University School of Medicine, Shanghai 200030, China
  • Online:2017-07-28 Published:2017-08-25
  • Supported by:
    National Natural Science Foundation of China, 81671326; Key Project for “Precision Medicine Research” , National Key Research and Development Program of China, 2016YFC0906402; Scientific Research Program of Science and Technology Commission of Shanghai Municipality, 17411970000; Fundamental Research Fund for the Central Universities, 16JXRZ06；International Cooperation Project of Shanghai Mental Health Center, 2015-YJGJ-03

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摘要： 目的 · 探讨中国汉族人群补体因子 H(CFH) 基因单核苷酸多态性（SNP）位点与精神分裂症的相关性。方法 · 采用 SNaPshot 法，对 418 例精神分裂症患者（病例组）和655 个正常健康人（正常对照组）CFH 基因5 个 SNP 位点（rs800292、rs1061170、 rs10801555、rs10922096、rs2019727）的基因型、等位基因、单体型频率进行比较。结果 · 成功检测5 个 SNP 位点的基因型，关联 分析显示 rs1061170 位点等位基因频率分布在病例组和对照组之间差异有统计学意义（校正 P 值 =0.045），其他位点的基因型和等位 基因频率分布在 2 组间差异均无统计学意义（均校正 P 值>0.05）。由 rs800292-rs1061170-rs10801555-rs10922096-rs2019727 组成的单 体型C-A-T-A-A 频率分布在2 组之间的差异有统计学意义( 校正P 值 =0.013)。结论 · CFH 基因rs1061170 位点等位基因多态性以及 rs800292-rs1061170-rs10801555-rs10922096-rs2019727 单体型 C-A-T-A-A 可能与中国汉族人群中的精神分裂症发病有关。

关键词: 精神分裂症, 补体因子 H 基因, 单核苷酸多态性, 连锁不平衡检验, 单体型

Abstract:

 Objective · To investigate the correlation of single nucleotide polymorphism (SNP) of complement factor H (CFH) gene with schizophrenia in Chinese Han population.  Methods · The genotype, allele, and haplotype frequencies of 5 SNP loci (rs800292, rs1061170, rs10801555, rs10922096 and rs2019727) in CFH gene were compared between 418 patients with schizophrenia (case group) and 655 normal people (control group) by SNaPshot technique.  Results · All SNP loci were well genotyped in the subjects. Correlation analysis showed that rs1061170 locus allele frequency distribution difference between case group and control group was statistically significant (corrected P=0.045), while genotype and allele frequencies of other SNP loci were not significantly different (all corrected P>0.05). The frequency of haplotype C-A-T-A-A (rs800292-rs1061170-rs10801555-rs10922096-rs2019727) in case group was different from that in control group (corrected P=0.013).  Conclusion · The allele polymorphisms of rs1061170 and the haplotype C-AT-A-A of rs800292-rs1061170-rs10801555-rs10922096-rs2019727 may be associated with schizophrenia in Chinese Han population.

Key words: schizophrenia, complement factor H gene, single nucleotide polymorphism, transmission disequilibrium, haplotype