HNF1A和HNF1B基因遗传变异与乳腺癌遗传易感性的关联研究
作者:
作者单位:

作者简介:

通讯作者:

中图分类号:

基金项目:

国家自然科学基金(82073639)


Genetic polymorphisms in HNF1A and HNF1B are associated with breast cancer susceptibility
Author:
Affiliation:

Fund Project:

  • 摘要
  • |
  • 图/表
  • |
  • 访问统计
  • |
  • 参考文献
  • |
  • 相似文献
  • |
  • 引证文献
  • |
  • 资源附件
  • |
  • 文章评论
    摘要:

    目的:研究肝细胞核因子(hepatocyte nuclear factor 1,HNF)1A和HNF1B基因遗传变异与乳腺癌遗传易感性之间的相关性。方法:采用病例对照研究,选取1 032例经病理组织学确诊的乳腺癌患者以及与之相匹配的1 063例健康女性对照,应用Illumina基因分型平台对HNF1A和HNF1B基因多态位点进行基因分型检测;在调整年龄、初潮年龄、绝经状态的基础上,通过Logistic回归计算OR值及95%CI,比较不同基因型与乳腺癌发病风险之间的相关性。结果:位于HNF1A基因上的3个位点与中国人群乳腺癌发病风险显著相关,其中包括HNF1A基因外显子区的rs2464196(OR=0.80,95%CI:0.71~0.91,P=7.45×10-4),HNF1A基因内含子区的rs1183910(OR=0.87,95% CI:0.77~0.99,P=0.039)和rs7310409(OR=0.86,95% CI:0.76~0.98,P=0.023)。进一步FDR校正后,rs2464196位点与乳腺癌易感性仍然存在着显著的相关性(P=4.47×10-3)。结论:肝细胞核因子HNF1A基因上的rs2464196多态位点可能是中国人群乳腺癌的易感标志物。

    Abstract:

    Objective:We investigated whether genetic variants of HNF1A and HNF1B were associated with the risk of breast cancer in a Chinese Han population. Methods:A case-control study of 1 032 breast cancer cases and 1 063 cancer-free female controls was performed,and six single nucleotide polymorphisms(SNPs)in HNF1A and HNF1B were genotyped in Illumina genotyping platform. Logistic regression was used to calculate the odds ratios(ORs)and 95% confidence intervals(CIs)for the association between a single locus and breast cancer risk with adjustment for age,age at menarche,and menopausal status. Results:Multiple logistic regression analysis illustrated that three SNPs within HNF1A gene were associated with significantly decreased risk of breast cancer(rs2464196,OR=0.80,95%CI:0.71~0.91,P=7.45×10-4;rs1183910,OR=0.87,95%CI:0.77~0.99,P=0.039;rs7310409,OR=0.86,95% CI:0.76~0.98,P=0.023). After correction for multiple comparisons(FDR<0.05),rs2464196 was still significantly associated with susceptibility to breast cancer(P=4.47×10-3). Conclusion:The SNP rs2464196 within HNF1A gene may be a candidate marker for susceptibility to breast cancer in Chinese Han population.

    参考文献
    相似文献
    引证文献
引用本文

陈佳萍,周 静,蒋 涛,江 玥,马红霞. HNF1A和HNF1B基因遗传变异与乳腺癌遗传易感性的关联研究[J].南京医科大学学报(自然科学版),2022,42(2):239-244

复制
分享
文章指标
  • 点击次数:
  • 下载次数:
  • HTML阅读次数:
  • 引用次数:
历史
  • 收稿日期:2021-10-30
  • 最后修改日期:
  • 录用日期:
  • 在线发布日期: 2022-03-01
  • 出版日期:
通知关闭
郑重声明