Frequency of Gene Polymorphisms in Admixed Venezuelan Women with Recurrent Pregnancy Loss: Microsomal Epoxy Hydroxylase (rs1051740) and Enos (rs1799983)

• Published in: Current Issues in Molecular Biology
• Main Authors: María Johanna Peña, Claudia Valentina De Sanctis, Juan Bautista De Sanctis, Jenny Valentina Garmendia
• Format: Article
• Language: English
• Published: MDPI AG 2024-04-01
• Subjects: recurrent pregnancy loss; single nucleotide gene polymorphism (SNP); microsomal epoxy hydrolase (mEPH); endothelial nitric oxide synthase (eNOS); rs1051740; rs1799983
• Online Access: https://www.mdpi.com/1467-3045/46/4/217

Recurrent pregnancy loss (RPL) affects around 2% of women of reproductive age. Primary RPL is defined by ≥2 pregnancy losses and no normal birth delivery. In secondary RPL, the losses are after a normal pregnancy and delivery. Most cases have no clear aetiology, although primary cases are the most complex. Several gene single nucleotide polymorphisms (SNPs) have been associated with RPL. The frequency of some SNPs is increased in women suffering from RLP from Asian or Caucasian races; however, in admixed populations, the information on possible genetic links is scarce and contradictory. This study aimed to assess the frequency of two SNPs present in two different enzymes involved in medical conditions observed during pregnancy. It is a case–control study. Microsomal epoxy hydrolase (mEPH) is involved in detoxifying xenobiotics, is present in the ovaries, and is hormonally regulated. The endothelial nitric oxide synthase (NOS3) that forms nitric is involved in vascular tone. Two SNPs, rs1051740 (mEPH) and rs1799983 (NOS3), were assessed. The study included 50 controls and 63 primary RPL patients. The frequency of mutated alleles in both SNPs was significantly higher in patients (<i>p</i> < 0.05). Double-mutated homozygotes were encountered only in RPL patients (<i>p</i> < 0.05). Genetic polymorphisms rs1051740 and rs1799983 may be involved in primary RPL in the Venezuelan admix population. Genetic studies could provide crucial information on the aetiology of primary RPL.