Association of DNA Repair Gene APE1 Asp148Glu Polymorphism with Breast Cancer Risk.
Association of DNA Repair Gene APE1 Asp148Glu Polymorphism with Breast Cancer Risk.
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DOI：
10.1155/2015/869512
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发表时间：
2015
期刊：
影响因子：
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通讯作者：
Parine NR
中科院分区：
文献类型：
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作者：
AlMutairi F;Pathan AA;Alanazi M;Shalaby M;Alabdulkarim HA;Alamri A;Al Naeem A;Elrobh M;Shaik JP;Khan W;Khan Z;Parine NR
客观的。本研究的目的是调查 APE1 Asp148Glu 多态性在沙特人群乳腺癌进展中的作用。方法。我们使用基因型分析和计算机结构及功能预测，检查了 DNA 碱基切除修复基因 APE1 密码子 148 (Asp148Glu) 处的遗传变异 (rs1130409) 及其与乳腺癌风险的关联。使用 Asp148Glu 等位基因进行计算机结构分析，并与预测的天然蛋白质结构进行比较。使用溶剂可及性模型对 APE1 的野生型和突变型 3D 结构进行比较和分析，以确认蛋白质稳定性。结果。 APE1 (rs1130409) 的基因型分析显示 Asp148Glu 与乳腺癌易感性升高具有统计学显着相关性。计算机分析结果表明，nsSNP Asp148Glu 可能会导致蛋白质结构发生变化，并与乳腺癌风险相关。结论。总而言之，这是第一份证实 Asp148Glu 变体对 APE1 具有结构和功能影响的报告，并且可能在沙特人群的乳腺癌进展中发挥重要作用。
Objective. The aim of this study was to investigate the role of APE1 Asp148Glu polymorphism in breast cancer progression in Saudi population. Methods. We examined the genetic variations (rs1130409) in the DNA base excision repair gene APE1 at codon 148 (Asp148Glu) and its association with breast cancer risk using genotypic assays and in silico structural as well as functional predictions. In silico structural analysis was performed with Asp148Glu allele and compared with the predicted native protein structure. The wild and mutant 3D structures of APE1 were compared and analyzed using solvent accessibility models for protein stability confirmation. Results. Genotypic analysis of APE1 (rs1130409) showed statistically significant association of Asp148Glu with elevated susceptibility to breast cancer. The in silico analysis results indicated that the nsSNP Asp148Glu may cause changes in the protein structure and is associated with breast cancer risk. Conclusion. Taken together, this is the first report that established that Asp148Glu variant has structural and functional effect on the APE1 and may play an important role in breast cancer progression in Saudi population.