title: Association between PARP-1 V762A polymorphism and breast cancer susceptibility in Saudi population.
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.
authors.affiliation: Genome research chair, Department of Biochemistry, College of Science, King Saud University, Riyadh, Kingdom of Saudi Arabia.
authors.forename: Mohammad
authors.initials: M
authors.lastname: Alanazi
authors.affiliation: Genome research chair, Department of Biochemistry, College of Science, King Saud University, Riyadh, Kingdom of Saudi Arabia.
authors.forename: Akbar Ali Khan
authors.initials: AA
authors.lastname: Pathan
authors.forename: Zainularifeen
authors.initials: Z
authors.lastname: Abduljaleel
authors.affiliation: Genome research chair, Department of Biochemistry, College of Science, King Saud University, Riyadh, Kingdom of Saudi Arabia ; Medical Genetics Department, Science and Technology Unit. Umm Al Qura University. Mecca, Saudi Arabia.
authors.forename: Zainul
authors.initials: Z
authors.lastname: Arifeen
authors.affiliation: Genome research chair, Department of Biochemistry, College of Science, King Saud University, Riyadh, Kingdom of Saudi Arabia.
authors.forename: Jilani P
authors.initials: JP
authors.lastname: Shaik
authors.affiliation: The Comprehensive Cancer Center at King Fahad Medical City, Riyadh, Saudi Arabia.
authors.forename: Huda A
authors.initials: HA
authors.lastname: Alabdulkarim
authors.affiliation: Genome research chair, Department of Biochemistry, College of Science, King Saud University, Riyadh, Kingdom of Saudi Arabia.
authors.forename: Abdelhabib
authors.initials: A
authors.lastname: Semlali
authors.affiliation: Genome research chair, Department of Biochemistry, College of Science, King Saud University, Riyadh, Kingdom of Saudi Arabia.
authors.forename: Mohammad D
authors.initials: MD
authors.lastname: Bazzi
authors.affiliation: Genome research chair, Department of Biochemistry, College of Science, King Saud University, Riyadh, Kingdom of Saudi Arabia.
authors.forename: Narasimha Reddy
authors.initials: NR
authors.lastname: Parine
mesh_terms: D019943:Amino Acid Substitution; D044466:Asian People / Q000235:genetics*; D001943:Breast Neoplasms / Q000201:enzymology* / Q000235:genetics* / Q000473:pathology; D003198:Computer Simulation; D004795:Enzyme Stability; D005260:Female; D015972:Gene Expression Regulation, Neoplastic; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D056004:Molecular Dynamics Simulation; D009154:Mutation; D009367:Neoplasm Staging; D000071137:Poly (ADP-Ribose) Polymerase-1; D011065:Poly(ADP-ribose) Polymerases / Q000737:chemistry / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D012529:Saudi Arabia
chemical_list: C499320:PARP1 protein, human; D000071137:Poly (ADP-Ribose) Polymerase-1; D011065:Poly(ADP-ribose) Polymerases