Shakil Malik Saima, Mubarik Sumaira, Baig Mehreen, Masood Nosheen, Chaudhry Nayyer
Microbiology and Biotechnology Research Lab, Fatima Jinnah Women University, The Mall Rawalpindi.
Department of Epidemiology and Biostatistics, School of Health Sciences, Wuhan University, Wuhan, China.
Mol Biol Res Commun. 2019 Mar;8(1):27-31. doi: 10.22099/mbrc.2019.32294.1383.
plays crucial role in excision repair DNA damage induced by UV in NER pathway. Single neuleotide polymorphism in were responsible for different cancers. Therefore, current study evaluated the relationship between (rs1047768 T>C) polymorphism and the risk of breast cancer in Pakistani population. The rs1047768 polymorphism was screened among 175 females including one hundred breast cancer cases and age matched seventy-five healthy controls. Genotyping was performed with Tetra amplification-refractory mutation system (ARMS) PCR and products were observed through electrophoresis. Multivariate logistic regression was used to calculate odds ratio (OR) and 95% confidence interval (95% CI) investigating relationship between genotypes, clinical parameters and risk of breast cancer. Statistical analysis exhibited significant relationship between the TC genotype (OR=7.2, 95% CI=1.5-34.3) and increased breast cancer risk. Moreover, family history (OR=6.25; 95% CI= 2.61-15.00) and late menopause (OR=2.41; 95% CI=1.20-4.83) were found to be breast cancer associated risk factors. In conclusion, (rs1047768 T>C) polymorphism may contribute towards increased risk of breast cancer in Pakistani population.
在核苷酸切除修复（NER）途径中，其在紫外线诱导的DNA损伤切除修复中发挥关键作用。[基因名称]中的单核苷酸多态性与不同癌症相关。因此，本研究评估了[基因名称]（rs1047768 T>C）多态性与巴基斯坦人群乳腺癌风险之间的关系。在175名女性中筛查了rs1047768多态性，其中包括100例乳腺癌病例和年龄匹配的75名健康对照。采用四重扩增不应性突变系统（ARMS）PCR进行基因分型，并通过电泳观察产物。使用多变量逻辑回归计算比值比（OR）和95%置信区间（95%CI），以研究基因型、临床参数与乳腺癌风险之间的关系。统计分析显示TC基因型（OR=7.2，95%CI=1.5 - 34.3）与乳腺癌风险增加之间存在显著关系。此外，家族史（OR=6.25；95%CI=2.61 - 15.00）和绝经延迟（OR=2.41；95%CI=1.20 - 4.83）被发现是与乳腺癌相关的风险因素。总之，[基因名称]（rs1047768 T>C）多态性可能导致巴基斯坦人群乳腺癌风险增加。
