HNF1A/B基因遗传变异与乳腺癌遗传易感性的关联研究
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1.南京医科大学;2.江苏省苏北人民医院

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国家自然科学基金委面上项目(82073639)


Genetic polymorphisms in HNF1A and HNF1B are associated with breast cancer susceptibility
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Nanjing Medical University

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The National Natural Science Foundation of China(82073639)

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    摘要:

    目的:研究肝细胞核因子HNF1A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:采用病例对照研究设计,选取1032例经病理组织学确诊的乳腺癌患者以及与之相匹配的1063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回归计算比值比(OR值)及其95%可信区间(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)以及rs7310409(OR = 0.86,95% CI:0.76-0.98,P =0.023)。进一步FDR校正后,rs2464196位点与中国人群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: In this study, we investigated whether genetic variants of HNF1A and HNF1B could be associated with the risk of breast cancer in a Chinese Han population. Methods: A case-control study of 1032 breast cancer cases and 1063 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 are 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 remains significant (P = 4.47×10-3). Conclusions: The findings indicated that the rs2464196 within HNF1A gene may be a candidate marker for susceptibility to breast cancer in Chinese Han population.

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  • 收稿日期:2021-06-22
  • 最后修改日期:2021-11-09
  • 录用日期:2022-02-25
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