Preprint Article Version 1 Preserved in Portico This version is not peer-reviewed

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

Version 1 : Received: 28 February 2024 / Approved: 29 February 2024 / Online: 29 February 2024 (14:07:05 CET)

How to cite: Peña, M.J.; De Sanctis, C.V.; de Sanctis, J.B.; Garmendia, J. Frequency of Gene Polymorphisms in Admixed Venezuelan Women with Recurrent Pregnancy Loss: Microsomal Epoxy Hydroxylase (rs1051740) and Enos (rs1799983). Preprints 2024, 2024021748. https://doi.org/10.20944/preprints202402.1748.v1 Peña, M.J.; De Sanctis, C.V.; de Sanctis, J.B.; Garmendia, J. Frequency of Gene Polymorphisms in Admixed Venezuelan Women with Recurrent Pregnancy Loss: Microsomal Epoxy Hydroxylase (rs1051740) and Enos (rs1799983). Preprints 2024, 2024021748. https://doi.org/10.20944/preprints202402.1748.v1

Abstract

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 polymorphisms have been associated with RPL. Some polymorphisms are increased in women of Asian or Caucasian race. In admixed RPL populations, the information on possible genetic links is scarce and contradictory. The study aimed to assess the frequency of two SNP in different enzymes involved in medical conditions observed during pregnancy. Microsomal epoxy hydrolase (mEPH) is involved in detoxifying xenobiotics. It is present in ovaries, and it is hormonally regulated. The endothelial nitric oxide synthase forms nitric oxide from arginine and is involved in vascular tone. Two SNPs, rs1051740 and rs1799983, were assessed. The study included 26 controls and 63 primary RPL patients. Significant differences were observed in the frequencies of both SNP (p<0.05). The frequency of mutated alleles was higher in patients. Double mutated homozygotes were encountered only in RLP patients (p<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.

Keywords

recurrent pregnancy loss; single nucleotide gene polymorphism (SNP); microsomal epoxy hydrolase (mEPH); endothelial Nitric oxide synthase (eNOS); rs1051740; rs1799983

Subject

Medicine and Pharmacology, Immunology and Allergy

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