title: Genetic polymorphisms in DNA repair gene APE1, XRCC1 and XPD and the risk of pre-eclampsia.
abstract: OBJECTIVE
  Oxidative stress has been postulated as a major contributor to placental hypoperfusion and ischemia in pre-eclampsia (PE). Reactive oxygen species (ROS) generated during placental ischemia can cause oxidative damage to nucleic acids. Base excision repair (BER) and nucleotide excision repair (NER) are major pathways responsible for removing the oxidative DNA damage. Polymorphisms in DNA repair genes may be associated with differences in the repair efficiency of DNA damage.
  
  
  METHODS
  In order to investigate the possible association between DNA repair genes and PE susceptibility, we analyzed genotype and allele distributions of APE1-148, XRCC1-194, XRCC1-399 and XPD-751 genes in 101 patients with PE and 107 healthy women. Differences in genotype distributions and allele frequencies in the cases and the controls were compared for statistical significance using the chi(2)-test. Haplotype frequencies were estimated using a contingency chi(2)-test. One-way ANOVA and Mann-Whitney U-test were used for the statistics of the clinical and biochemical parameters.
  
  
  RESULTS
  No significant association between PE and the variant alleles of APE1 codon 148 (OR: 0.77, 95% CI=0.51-1.15), XRCC1 codon 194 (OR: 0.64, 95% CI=0.30-1.37), XRCC1 codon 399 (OR: 1.16, 95% CI=0.78-1.74) and XPD codon 751 (OR: 1.21, 95% CI=0.81-1.80) was observed. Results of our haplotype analysis demonstrated that there is a high linkage disequilibrium (D': 1.0, r(2)=0.042) between the haplotypes of XRCC1 codon 194 and codon 399 markers.
  
  
  CONCLUSIONS
  These preliminary results suggest that the polymorphic variants of APE1-148, XRCC1-194, XRCC1-399, and XPD-751 genes are not significant risk factors for PE development.
authors: Department of Biochemistry, Istanbul Faculty of Medicine, Istanbul University, Capa 34093, Istanbul, Turkey.
authors: Pervin
authors: P
authors: Vural
authors: Sevgin
authors: S
authors: Değirmencioğlu
authors: Semra
authors: S
authors: Doğru-Abbasoğlu
authors: Neslihan Y
authors: NY
authors: Saral
authors: Cemil
authors: C
authors: Akgül
authors: Müjdat
authors: M
authors: Uysal
mesh_terms: D000328:Adult; D016022:Case-Control Studies; D043603:DNA-(Apurinic or Apyrimidinic Site) Lyase / Q000235:genetics*; D004268:DNA-Binding Proteins / Q000235:genetics*; D005260:Female; D005787:Gene Frequency / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005838:Genotype; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D015810:Linkage Disequilibrium / Q000235:genetics; D011110:Polymorphism, Genetic / Q000235:genetics*; D011225:Pre-Eclampsia / Q000235:genetics*; D011247:Pregnancy; D012307:Risk Factors; D000076105:X-ray Repair Cross Complementing Protein 1; D051759:Xeroderma Pigmentosum Group D Protein / Q000235:genetics*
chemical_list: D004268:DNA-Binding Proteins; D000076105:X-ray Repair Cross Complementing Protein 1; C000619371:XRCC1 protein, human; D051759:Xeroderma Pigmentosum Group D Protein; C085108:APEX1 protein, human; D043603:DNA-(Apurinic or Apyrimidinic Site) Lyase; C497292:ERCC2 protein, human