title: Polymorphisms in DNA repair genes XRCC1 and OGG1 lead to the progression of rheumatoid arthritis in Pakistani patients.
abstract: This study points at the elucidation of a possible association of Rheumatoid arthritis (RA) with Ser326Cys in OGG1 Arg194Trp and Arg399Gln polymorphisms of XRCC1 using a sample size of 100 patients and 100 controls from a Pakistani population. This association was determined using Random Fragment Length Polymorphism Analysis as well as the DAS scoring system. In RA, oxidative damage due to free radical production leads to destructive proliferative synovitis showing cellular transformations of synoviocytes into a tumorigenic state. XRCC1 and OGG1 genes, which are part of the DNA Break Excision Repair pathway, manifest various polymorphisms which may cause a variation in the response to inflammation by changing DNA repair potential. Our results showed a significant association between the DAS28 score values as well as the genotypic state of the RA patients. It was seen that the score was significantly higher in GG genotypes thereby corroborating the role of the polymorphism XRCC1 Arg399Gln. Using a Pearson's correlation test it was found to be <0.000003. It has been shown by the results in this research that an increased risk of DNA damage exists when the polymorphic genotypes studied, exist in a RA patient.
authors.affiliation: Atta-ur-Rahman School of Applied Biosciences (ASAB). National University of Sciences and Technology (NUST). Sector H-12, Islamabad, Pakistan.
authors.forename: Mirza Muhammad Fahd
authors.initials: MM
authors.lastname: Qadir
authors.affiliation: Atta-ur-Rahman School of Applied Biosciences (ASAB). National University of Sciences and Technology (NUST). Sector H-12, Islamabad, Pakistan.
authors.forename: Attya
authors.initials: A
authors.lastname: Bhatti
authors.affiliation: Atta-ur-Rahman School of Applied Biosciences (ASAB). National University of Sciences and Technology (NUST). Sector H-12, Islamabad, Pakistan.
authors.forename: Rabia
authors.initials: R
authors.lastname: Khurshid
authors.affiliation: Atta-ur-Rahman School of Applied Biosciences (ASAB). National University of Sciences and Technology (NUST). Sector H-12, Islamabad, Pakistan.
authors.forename: Muhammad Usman
authors.initials: MU
authors.lastname: Ashraf
authors.affiliation: Atta-ur-Rahman School of Applied Biosciences (ASAB). National University of Sciences and Technology (NUST). Sector H-12, Islamabad, Pakistan.
authors.forename: Sidrah
authors.initials: S
authors.lastname: Anjum
authors.affiliation: Atta-ur-Rahman School of Applied Biosciences (ASAB). National University of Sciences and Technology (NUST). Sector H-12, Islamabad, Pakistan.
authors.forename: Peter
authors.initials: P
authors.lastname: John
mesh_terms: D001172:Arthritis, Rheumatoid / Q000235:genetics*; D045647:DNA Glycosylases / Q000235:genetics*; D004268:DNA-Binding Proteins / Q000235:genetics*; D018450:Disease Progression; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D020641:Polymorphism, Single Nucleotide; D000076105:X-ray Repair Cross Complementing Protein 1
chemical_list: D004268:DNA-Binding Proteins; D000076105:X-ray Repair Cross Complementing Protein 1; C000619371:XRCC1 protein, human; D045647:DNA Glycosylases; C479058:oxoguanine glycosylase 1, human