title: DNA repair gene XRCC1 and XRCC4 variations and risk of endometriosis: an association study.
abstract: BACKGROUND
  Endometriosis is a polygenic and multifactorial disease. DNA damage plays a major role in mutagenesis, carcinogenesis and aging and is usually repaired by the action of several DNA repair enzymes. We investigated the association of the common variations of the DNA repair genes XRCC1 and XRCC4 with susceptibility to endometriosis in an Iranian population.
  
  
  METHODS
  In total, 160 patients with endometriosis (stages I-IV) and 174 healthy women were included in this case-control study. Genotyping of XRCC1 codon 399 as well as of XRCC4 -1394T/G, codon 247 and intron 3 insertion/deletion variations was performed using restriction fragment length polymorphism analysis of PCR-amplified fragments.
  
  
  RESULTS
  The XRCC4 -1394TG genotype frequency was significantly lower (p = 0.005) in the patients (9.4%) than in the controls (21.1%). The frequency of the -1394G allele was significantly lower (p < 0.0001) in the patients (6.6%) than in the controls (19.0%). There were no statistically significant differences in the genotype and allele frequencies of the XRCC1 codon 399, XRCC4 codon 247 and XRCC4 intron 3 insertion/deletion polymorphisms between the cases and controls.
  
  
  CONCLUSIONS
  The XRCC4 -1394T/G polymorphism was associated with susceptibility to endometriosis in an Iranian population.
authors.affiliation: Reproductive Biotechnology Research Center, Avicenna Research Institute, ACECR, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
authors.forename: Kioomars
authors.initials: K
authors.lastname: Saliminejad
authors.forename: Mitra
authors.initials: M
authors.lastname: Saket
authors.forename: Koorosh
authors.initials: K
authors.lastname: Kamali
authors.forename: Toktam
authors.initials: T
authors.lastname: Memariani
authors.forename: Hamid Reza
authors.initials: HR
authors.lastname: Khorram Khorshid
mesh_terms: D000328:Adult; D004268:DNA-Binding Proteins / Q000235:genetics*; D004715:Endometriosis / Q000235:genetics*; D005260:Female; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006801:Humans; D007492:Iran; D008875:Middle Aged; D011110:Polymorphism, Genetic; D000076105:X-ray Repair Cross Complementing Protein 1; D055815:Young Adult
chemical_list: D004268:DNA-Binding Proteins; D000076105:X-ray Repair Cross Complementing Protein 1; C000619371:XRCC1 protein, human; C101467:XRCC4 protein, human