| 马建萍,宋连川,种生珍,等.缺氧诱导因子2α基因多态性与乳腺癌相关性[J].肿瘤学杂志,2022,28(12):1014-1019. |
| 缺氧诱导因子2α基因多态性与乳腺癌相关性 |
| Association of Hypoxia-inducible Factor 2α Gene Polymorphisms with Breast Cancer |
| 投稿时间：2022-08-04 |
| DOI：10.11735/j.issn.1671-170X.2022.12.B007 |
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| 中文关键词: 缺氧诱导因子2α 乳腺癌 基因多态性 |
| 英文关键词:hypoxia-inducible factor 2α breast cancer gene polymorphism |
| 基金项目:青海省卫健委医药卫生科技项目指导性计划课题(2021-WJZDX-80) |
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| 中文摘要: |
| 摘 要：［目的］探讨缺氧诱导因子2α（HIF-2α）基因多态性与乳腺癌的关系。［方法］ 研究入组2019年1月至 2022年1月间在青海省肿瘤医院乳腺科就诊的258例乳腺癌患者和270名健康女性（对照组），研究对象检测4个HIF-2α单核苷酸多态性（rs12619696、rs13419896、rs2881504和rs4953354），分析HIF-2α多态 性与乳腺癌易感性之间的关联。使用Kaplan-Meier分析分析来自癌症基因组图谱（TCGA）数据库的1 376个乳腺癌样本的总体生存率。［结果］ 免疫组织化学染色显示，乳腺肿瘤组织标本中的HIF-2α表达高于癌旁组织标本（P<0.05）。TCGA数据集分析显示，HIF-2α高表达乳腺癌患者的总体生存率较低表达显著性降低（P<0.05）。具有CT基因型的HIF-2α rs13419896者患乳腺癌可能性是TT纯合子的2.20倍（AOR=2.20， 95%CI：1.70~2.85，P<0.05）。具有HIF-2α rs4953354多态性的C等位基因的女性比具有T等位基因的女性更容易患乳腺癌（AOR=1.29，95%CI：1.06~1.57，P<0.05）。在rs13419896 HIF-2α基因型中，具有CT基因型的患者较具有TT基因型者增加患Ⅲ~Ⅳ期疾病（OR=1.72，95%CI：1.11~2.67）。［结论］ HIF-2α基因变异与乳腺癌易感性及其在携带HIF-2α rs13419896多态性女性的乳腺癌进展之间存在关联性。 |
| 英文摘要: |
| Abstract：［Objective］ To investigate the relationship between the polymorphism of hypoxia-inducible factor 2α(HIF-2α) gene and breast cancer. ［Methods］ A total of 258 breast cancer patients and 270 healthy women(controls) were recruited from Qinghai Cancer Hospital between January 2019 and January 2022. The HIF-2α SNPs(rs12619696， rs13419896， rs2881504 and rs4953354) were detected with qPCR method. The association between polymorphism of HIF-2α SNPs(rs12619696， rs13419896， rs2881504 and rs4953354) and susceptibility of breast cancer was analyzed. The overall survival of 1 376 patients with breast cancer from the Cancer Genome Atlas(TCGA) database30 was analyzed using Kaplan-Meier analysis. ［Results］ Immunohistochemical staining showed that the expression of HIF-2α in breast cancer tumor tissue samples was higher than that in adjacent tissue samples(P<0.05). TCGA dataset analysis showed that the overall survival rate of breast cancer patients with high HIF-2α expression was significantly lower than that with low HIF-2α expression(P<0.05). Compared to TT homozygote of HIF-2α rs13419896， the risk of developing breast cancer in subjects with CT genotype was signi-ficantly higher(AOR=2.20， 95%CI： 1.70~2.85， P<0.05). Compared with T allele， the risk of breast cancer in subjects with the C allele of the HIF-2α rs4953354 polymorphism was higher(AOR=1.29， 95%CI： 1.06~1.57， P<0.05). Compare with the TT genotype of HIF-2α rs13419896， patients with CT genotype were more likely to develop stage Ⅲ~Ⅳ cancer(OR=1.72， 95%CI： 1.11~2.67). ［Conclusion］ There is an association between HIF-2α gene variants and breast cancer susceptibility and HIF-2α rs13419896 polymorphism is associated with breast cancer progression. |
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