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Association between PARP-1 V762A Polymorphism and Breast Cancer Susceptibility in Saudi Population |
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| Authors: | Mohammad Alanazi Akbar Ali Khan Pathan Zainul Arifeen Jilani P. Shaik Huda A. Alabdulkarim Abdelhabib Semlali Mohammad D. Bazzi Narasimha Reddy Parine |
| Affiliation: | 1. Genome research chair, Department of Biochemistry, College of Science, King Saud University, Riyadh, Kingdom of Saudi Arabia.; 2. Medical Genetics Department, Science and Technology Unit. Umm Al Qura University. Mecca, Saudi Arabia.; 3. The Comprehensive Cancer Center at King Fahad Medical City, Riyadh, Saudi Arabia.; Nazarbayev University, Kazakhstan, |
| Abstract: | Genetic aberrations of DNA repair enzymes are known to be common events and to be associated with different cancer entities. Aim of the following study was to analyze the genetic association of rs1136410 (Val762Ala) in PARP1 gene with the risk of breast cancer using genotypic assays and insilico structural predictions. Genotypic analysis of individual locus showed statistically significant association of Val762Ala with increased susceptibility to breast cancer. Protein structural analysis was performed with Val762Ala variant allele and compared with the predicted native protein structure. Protein prediction analysis showed that this nsSNP may cause changes in the protein structure and it is associated with the disease. In addition to the native and mutant 3D structures of PARP1 were also analyzed using solvent accessibility models for further protein stability confirmation. Taken together, this the first study that confirmed Val762Ala variant has functional effect and structural impact on the PARP1 and may play an important role in breast cancer progression in Saudi population. |
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