Ali Alaa Mohammed, AbdulKareem Huda, Al Anazi Mohammad, Reddy Parine Narasimha, Shaik Jilani Purusottapatnam, Alamri Abdullah, Ali Khan Pathan Akbar, Warsy Arjumand
Department of Biochemistry, College of Science, King Saud University, Riyadh, Saudi Arabia.
Comprehensive Cancer Center, Department of Women's Imaging, King Fahad Medical City, Riyadh, Saudi Arabia.
Biomed Res Int. 2016;2016:8721052. doi: 10.1155/2016/8721052. Epub 2016 Jan 6.
We investigated three common polymorphisms (SNPs) in the XRCC3 gene (rs861539, rs1799794, and rs1799796) in 143 Saudi females suffering from breast cancer (median age = 51.4 years) and 145 age matched normal healthy controls. DNA was extracted from whole blood and genotyping was conducted using PCR-RFLP. rs1799794 showed significant association, where AA and AA+AG occurred at a significantly higher frequency in the cancer patients compared to the control group (OR: 28.1; 95% CI: 3.76-21.12; χ (2): 22.82; p < 0.0001). The G allele was protective and presented with a dominant model. The genotype and allele frequencies of rs861539 C>T and rs1799796 A>G did not show a significant difference when the results in the patients and controls were compared. However, the frequency of rs1799796 differed significantly in patients with different age of diagnosis, tumor grade, and ER and HER2 status. The wild type A allele occurred at a higher frequency in the ER- and HER2- group. Our results among Saudis suggest that some variations in XRCC3 may contribute to breast cancer susceptibility. In conclusion, the results obtained during this study suggest that rs1799794 in XRCC3 shows strong association with breast cancer development in Saudi females.
我们在143名患有乳腺癌的沙特女性(中位年龄 = 51.4岁)和145名年龄匹配的正常健康对照者中,研究了XRCC3基因中的三种常见多态性(单核苷酸多态性,SNPs)(rs861539、rs1799794和rs1799796)。从全血中提取DNA,并使用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)进行基因分型。rs1799794显示出显著关联,与对照组相比,癌症患者中AA和AA + AG的出现频率显著更高(比值比:28.1;95%置信区间:3.76 - 21.12;χ²:22.82;p < 0.0001)。G等位基因具有保护作用,并呈现显性模型。当比较患者和对照组的结果时,rs861539 C>T和rs1799796 A>G的基因型和等位基因频率没有显示出显著差异。然而,rs1799796的频率在不同诊断年龄、肿瘤分级以及雌激素受体(ER)和人表皮生长因子受体2(HER2)状态的患者中存在显著差异。野生型A等位基因在ER阴性和HER2阴性组中出现频率更高。我们在沙特人群中的研究结果表明,XRCC3中的某些变异可能与乳腺癌易感性有关。总之,本研究获得的结果表明,XRCC3中的rs1799794与沙特女性乳腺癌的发生密切相关。