上海交通大学学报（医学版）

上海交通大学学报（医学版） ›› 2019, Vol. 39 ›› Issue (10): 1172-.doi: 10.3969/j.issn.1674-8115.2019.10.012

• 论著·临床研究 • 上一篇    下一篇

中国汉族人群SNAP25基因多态性与精神分裂症的关联研究

伍 毅1，吴贻明1，宋兵福1，黄欣欣2，吕钦谕2，易正辉2   

  1. 1.上海市杨浦区精神卫生中心，上海 200093；2.上海交通大学医学院附属精神卫生中心，上海 201108
  • 出版日期:2019-10-28 发布日期:2019-11-22
  • 通讯作者: 吕钦谕，电子信箱：lvqinyu_louis@163.com；黄欣欣，电子信箱：xinxinhuang1994@163.com。
  • 作者简介:伍 毅（1967—），男，主任医师，学士；电子信箱：13818426469@163.com。
  • 基金资助:
    上海市杨浦区科学技术委员会项目（YP15M06）；上海市科学技术委员会科研计划项目（17411970000）

Association study of SNAP25 gene polymorphisms with schizophrenia in Chinese Han population

WU Yi1, WU Yi-ming1, SONG Bing-fu1, HUANG Xin-xin2, Lü Qin-yu2, YI Zheng-hui2   

  1. 1. Yangpu District Mental Health Center, Shanghai 200093, China; 2. Shanghai Mental Health Center, Shanghai Jiao Tong University School of Medicine, Shanghai 201108, China
  • Online:2019-10-28 Published:2019-11-22
  • Supported by:
    Project of Science and Technology Committee of Yangpu District, Shanghai, YP15M06; Science and Technology Commission of Shanghai Municipality, 17411970000

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摘要： 目的·探讨中国汉族人群突触小体相关蛋白（synaptosomal-associated protein of 25 000，SNAP25）基因与精神分裂症（schizophrenia，SZ）的相关性。方法·采用TaqMan探针基因分型技术对434 例SZ患者（病例组）和432例健康对照（对照组）的SNAP25基因5个单核苷酸多态性（single nucleotide polymorphism，SNP）位点（rs3746544、rs8636、rs362998、rs6039769、rs6077690）进行分型，比较病例组与对照组间的等位基因、基因型，不同遗传模式下基因型以及单倍型频率分布的差异。结果·rs362998 和rs6039769 等位基因频率分布在病例组与对照组之间差异有统计学意义（P0.029，P0.033），经Bonferroni 校正后，差异均无统计学意义（均P>0.05）；病例组与对照组间rs362998和rs3746544基因型分布的差异具有统计学意义（P0.005，P0.043），校正后rs362998差异仍有统计学意义（P0.025），rs3746544差异无统计学意义（P>0.05）。rs362998位点在共显性和显性遗传模式下，基因型分布组间比较，差异有统计学意义（均P0.003），校正后差异仍有统计学意义（均P0.015）；rs3746544位点在共显性和隐性遗传模式下，基因型分布组间比较，差异有统计学意义（P0.042，P0.012），校正后差异无统计学意义（均P>0.05）。由rs3746544-rs8636组成的所有单倍型在病例组与对照组间的频率分布差异均未见统计学意义（均P>0.05）。结论·在中国汉族人群中，SNAP25可能是SZ的易感基因，rs362998位点可能与SZ发病有关。

关键词: 精神分裂症, SNAP25, 单核苷酸多态性, 关联分析

Abstract:

Objective · To investigate the relationship between synaptosomal-associated protein of 25 000 (SNAP25) gene and schizophrenia (SZ) in Chinese Han population. Methods · TaqMan probe genotyping technique was used to detect 5 single nucleotide polymorphisms (SNPs) of SNAP25 gene in 434 SZ patients (case group) and 432 healthy controls (control group). Rs3746544, rs8636, rs362998, rs6039769 and rs6077690 were genotyped to compare the alleles, genotypes, genotypes under different genetic models and haplotype frequency distributions between the case group and the control group. Results · The difference of frequency distribution of rs362998 and rs6039769 alleles was statistically significant between the case group and the control group (P0.029, P0.033, respectively). After Bonferroni correction, the differences were not statistically significant (all P>0.05). There was a statistically significant difference in the distribution of rs362998 and rs3746544 genotypes between the case group and the control group (P0.005, P0.043, respectively). There was still a statistically significant difference in rs362998 after correction (P0.025), but there was no statistical difference in rs3746544 (P>0.05). The rs362998 locus was statistically significant between the co-dominant and dominant-genetic models (P0.003), and the difference was still statistically significant after Bonferroni correction (P0.015). Under the codominant and recessive inheritance patterns, the difference of rs3746544 genotype distribution was statistically significant between the groups (P0.042, P0.012, respectively), and the difference was not statistically significant after correction (P>0.05). The differences of frequency distribution of all haplotypes consisting of rs3746544-rs8636 between the case group and the control group were not statistically significant (P>0.05). Conclusion · In Chinese Han population, SNAP25 may be a susceptibility gene for schizophrenia, and rs362998 may be involved in the pathogenesis of schizophrenia.

Key words: schizophrenia, SNAP25, single nucleotide polymorphism, association analysis

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