上海交通大学学报(医学版) ›› 2019, Vol. 39 ›› Issue (2): 147-.doi: 10.3969/j.issn.1674-8115.2019.02.008

• 论著·临床研究 • 上一篇    下一篇

锌指蛋白ZBTB22基因单核苷酸多态性与中国汉族人群精神分裂症的关联研究

庞杰 *,徐飞 *,李璨   

  1. 1. 上海交通大学医学院附属精神卫生中心生化研究室,上海 200030;2.中国科学院昆明动物研究所,昆明 650223;3. 浙江省立同德医院精神卫生科,杭州 310007;4.四川大学华西医院心理卫生中心,成都 610041
  • 出版日期:2019-02-28 发布日期:2019-03-19
  • 通讯作者: 李璨,电子信箱:lican@live.cn。
  • 作者简介:庞杰(1993—),男,硕士生;电子信箱: jiepang1993@163.com。徐飞(1992—),女,博士生;电子信箱: evenel@foxmail.com。*为共同第一作者。
  • 基金资助:
    国家重点研发计划“重大慢性非传染性疾病防控研究”重点专项( 2016YFC1307005);上海交通大学医工交叉研究基金( AG0890018)

Association study of zinc finger ZBTB22 single nucleotide polymorphisms and schizophrenia in Han Chinese population

PANG Jie*, XU Fei*, LI Can   

  1. Bio-X Institutes, Shanghai Jiao Tong University, Shanghai 200240, China
  • Online:2019-02-28 Published:2019-03-19
  • Supported by:
    National Key Research and Development Program of China, 2016YFC1307005; Biomedical Engineering Crossover Foundation of Shanghai Jiao Tong University, AG0890018

摘要: 目的 ·探索锌指蛋白 ZBTB22基因单核苷酸多态性( single nucleotide polymorphism,SNP)和中国汉族人群精神分裂症的关联。方法 ·采用病例 -对照研究方法,纳入中国汉族 658位精神分裂症患者和 658位健康对照,选取 ZBTB22基因 rs3130100、 rs1061783、rs1061801和 rs3130099共 4个 SNP位点进行基因分型,利用 SHEsis分析基因型频率、等位基因频率的分布差异,以及连锁不平衡检验和单倍型分析。结果 · rs3130100、rs1061783和 rs3130099这 3个 SNP位点在病例组和对照组等位基因频率间的差异具有统计学意义(经 Bonferroni校正后均 P<0.05),而基因型频率间的差异经 Bonferroni校正后无统计学意义。 4个位点处于强连锁不平衡状态,构成的单倍型 TCGA在精神分裂症患者中的频率显著降低(经 Bonferroni校正后 P0.015)。结论 · ZBTB22基因 rs3130100、rs3130099和 rs1061783位点的多态性可能与中国汉族人群精神分裂症相关。

关键词: ZBTB22基因, 精神分裂症, 单核苷酸多态性, 中国汉族人群, 病例 -对照研究

Abstract:

Objective · To explore the association of zinc finger ZBTB22 gene single nucleotide polymorphisms (SNPs) and schizophrenia in Han Chinese population. Methods · A case-control study was designedgenotyping four SNPs (rs3130100, rs1061783, rs1061801 and rs3130099) in 658 schizophrenia patients and 658 healthy controls of Chinese Han origin. SHEsis was used to analyze genotypic and allelic distributions, linkage disequilibrium and haplotype distribution. Results · rs3130100, rs1061783, and rs3130099 showed significant differences between the cases and controls in allele frequencies (P<0.05 after Bonferroni correction), but no statistically significant differences were found in genotype frequencies after Bonferroni correction. Strong linkage disequilibrium was found among the four SNPs, and the frequency of haplotype TCGA significantly decreased in the schizophrenia patients (P0.015 after Bonferroni correction). Conclusion · The ZBTB22 SNPs rs3130100, rs1061783 and rs3130099 may be associated with schizophrenia in Han Chinese population.

Key words: ZBTB22 gene, schizophrenia, single nucleotide polymorphism, Chinese Han population, case-control study

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