The contribution of base excision repair genes variability in the development of miscarriage in the first trimester

Base excision repair may play a role in the miscarriage with no known etiology in the first trimester, including recurrent miscarriage (RM). This study was conducted to investigate the association of polymorphisms of base excision repair genes (BER) with pregnancy loss. A total of 331 idiopathic miscarriage patients and 197 controls were genotyped for LIG3 rs1052536, NEIL1 rs4462560, FEN1 rs174538, NTHL1 rs2516739 and OGG1 rs1052133. We revealed significant associations of alleles in the genes OGG1 (rs1052133-G), NEIL1 (rs4462560-G) with RM, and OGG1 (rs1052133-G), NTHL1 (rs2516739-T) with miscarriage in the group with gestational age of more than 8.5 weeks. These genes belong to the family of DNA-glycosylases, which catalyze the first step of BER.