低外显率维生素D受体Tru9I（rs757343）基因多态性与绝经前乳腺癌风险的关联。
Association of low penetrance vitamin D receptor Tru9I (rs757343) gene polymorphism with risk of premenopausal breast cancer.
作者信息
Iqbal Mehir Un Nisa, Maqbool Syed Amir, Khan Taseer Ahmed
机构信息
1 Department of Physiology, 63596 University of Karachi , Karachi, Pakistan.
2 Department of Clinical Oncology, Karachi Institute of Radiotherapy and Nuclear Medicine (KIRAN) hospital, Karachi, Pakistan.
出版信息
J Int Med Res. 2018 May;46(5):1801-1814. doi: 10.1177/0300060518761304. Epub 2018 Mar 12.
Objective The aim of this study was to determine whether a novel polymorphism ( Tru9I) in the low penetrance vitamin D receptor (VDR) gene is associated with risk of premenopausal breast cancer (BC). Methods This case-control study included 228 patients with BC and 503 healthy women living in Pakistan who were analyzed for the VDR Tru9I (rs757343) single nucleotide polymorphism. BC cases were histopathologically confirmed, and all healthy controls were age-matched with patients (age range, 20-45 years). DNA was extracted, and the polymerase chain reaction and restriction fragment length polymorphism assays were performed. Results The VDR Tru9I polymorphism was not significantly associated with premenopausal BC. However, the risk of BC was associated with the 'uu' genotype (odds ratio [OR], 1.141; 95% confidence interval [95% CI], 0.206-6.317). Further, mutant Tru9I was significantly associated with Grade IV carcinoma (OR, 5.36; 95% CI, 1.181-24.338). Conclusion The VDR Tru9I 'uu' genotype may increase the risk of premenopausal BC.
目的 本研究旨在确定低 penetrance 维生素 D 受体（VDR）基因中的一种新型多态性（Tru9I）是否与绝经前乳腺癌（BC）风险相关。方法 本病例对照研究纳入了 228 例 BC 患者和 503 名居住在巴基斯坦的健康女性，对其进行 VDR Tru9I（rs757343）单核苷酸多态性分析。BC 病例经组织病理学确诊，所有健康对照与患者年龄匹配（年龄范围 20 - 45 岁）。提取 DNA，并进行聚合酶链反应和限制性片段长度多态性分析。结果 VDR Tru9I 多态性与绝经前 BC 无显著相关性。然而，BC 风险与“uu”基因型相关（优势比[OR]，1.141；95%置信区间[95%CI]，0.206 - 6.317）。此外，突变型 Tru9I 与 IV 级癌显著相关（OR，5.36；95%CI，1.181 - 24.338）。结论 VDR Tru9I“uu”基因型可能增加绝经前 BC 的风险。
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