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The ARG399GLN Polymorphism in DNA Repair Gene XRCC1 Does Not Alter Risk of Parkinson's Disease

Keywords: Parkinson's disease , DNA repair gene , XRRC1

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Abstract:

The etiology of Parkinson's disease (PD), a neurodegenerative disorder, is still unknown and the role of genetic factors have been implicated. XRCC1 (X-Ray Repair Cross-Complementingin) protein is required for DNA single-strand break repair and interacts with poly-ADP-ribose-polymerase (PARP), DNA-ligase III and DNA polymerase beta. It has been shown by mouse models that PARP may have a role in the pathogenesis of various diseases including PD. The aim of the study is to investigate the association of PD with XRCC1 gene Arg399Gln polymorphism. Seventy-one unrelated PD patients (50 male, 21 female) and 76 healthy age and sex matched volunteers (53 male, 23 female) have been included in the study. Molecular analyses have been performed with Polymerase Chain Reaction (PCR) and Restriction Fragment Length Polymorphism (RFLP) methods. The relationship between the XRCC1 gene Arg399Gln polymorphism and the PD risk has been investigated with the binary logistic regression analysis. No statistically significant relation has been determined between the PD and control groups (p=0,364). The present study is the first research about the relationship between the DNA repair genes and PD in the literature and does not show any relationship between PD and XRCC1 gene Arg399Gln polymorphism in Turkish population. Further studies with larger sample sizes will reveal more information about the genetic polymorphisms in DNA repair genes for the risk and the etiopathogenesis of PD.

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