title: XRCC1 Arg399Gln and Arg194Trp polymorphisms and risk of systemic lupus erythematosus in an Iranian population: a pilot study.
abstract: BACKGROUND
  Evidences are suggesting that DNA damage is implicated in development of systemic lupus erythematosus (SLE). Therefore we focused on two common XRCC1 polymorphisms (Arg399Gln and Arg194Trp) in SLE susceptibility in South East of Iran.
  
  
  METHODS
  Peripheral blood DNA was extracted from 163 SLE patients and 180 healthy controls. PCR-restriction fragment length polymorphism method was used for genotyping of XRCC1 Arg399Gln and Arg194Trp polymorphisms.
  
  
  RESULTS
  The frequency of Arg/Gln genotype of the XRCC1 Arg399Gln polymorphism was significantly lower in SLE patients than controls. Moreover, lower frequency of Arg/Gln genotype was found in SLE patients with malar rash compared to patients without this manifestation. No association was observed between XRCC1 Arg194Trp polymorphism and increased risk of SLE in studied population. Haplotype analysis revealed no correlation between four haplotypes of XRCC1 Arg399Gln and Arg194Trp polymorphisms and SLE risk.
  
  
  CONCLUSIONS
  These findings suggest that XRCC1 399 Arg/Gln heterozygous genotype plays a protective role in SLE susceptibility.
authors: Cellular and Molecular Research Center, Zahedan University of Medical Sciences, Zahedan, Iran ; Department of Clinical Biochemistry, School of Medicine, Zahedan University of Medical Sciences, Zahedan, Iran.
authors: Saeedeh
authors: S
authors: Salimi
authors: Cellular and Molecular Research Center, Zahedan University of Medical Sciences, Zahedan, Iran ; Department of Clinical Biochemistry, School of Medicine, Zahedan University of Medical Sciences, Zahedan, Iran.
authors: Milad
authors: M
authors: Mohammadoo-Khorasani
authors: Cellular and Molecular Research Center, Zahedan University of Medical Sciences, Zahedan, Iran ; Department of Clinical Biochemistry, School of Medicine, Zahedan University of Medical Sciences, Zahedan, Iran.
authors: Ehsan
authors: E
authors: Tabatabai
authors: Department of Internal Medicine, School of Medicine, Zahedan University of Medical Sciences, Zahedan, Iran.
authors: Mahnaz
authors: M
authors: Sandoughi
authors: Department of Internal Medicine, School of Medicine, Zahedan University of Medical Sciences, Zahedan, Iran.
authors: Zahra
authors: Z
authors: Zakeri
authors: Cellular and Molecular Research Center, Zahedan University of Medical Sciences, Zahedan, Iran.
authors: Anoosh
authors: A
authors: Naghavi
mesh_terms: D000328:Adult; D019943:Amino Acid Substitution; D016022:Case-Control Studies; D004268:DNA-Binding Proteins / Q000235:genetics*; D003710:Demography; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D007492:Iran; D008180:Lupus Erythematosus, Systemic / Q000235:genetics*; D008297:Male; D009154:Mutation / Q000235:genetics; D010865:Pilot Projects; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D012307:Risk Factors; 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