A meta-analysis for association of eNOS VNTR 4b/a,  – 786 T &gt; C and + 894G &gt; T polymorphisms with risk of recurrent pregnancy loss

Golestanpour, Hossein; Bahrami, Reza; Dastgheib, Seyed Alireza; Tabatabaei, Razieh Sadat; Javaheri, Atiyeh; Karimi-Zarchi, Mojgan; Mirjalili, Seyed Reza; Neámatzadeh, Hossein

doi:10.1007/s00404-021-06172-x

Cited by 4 publications

(4 citation statements)

References 52 publications

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“…Nitric oxide metabolites in pregnancy and pregnancy complications have been extensively studied [23,24], including RPL [25][26][27][28][29]. A possible association between endothelial nitric oxide synthase and RPL has been suggested, especially in exon 8, rs1799983 (+ 894G > T).…”

Section: Introductionmentioning

confidence: 99%

“…A possible association between endothelial nitric oxide synthase and RPL has been suggested, especially in exon 8, rs1799983 (+ 894G > T). Nonetheless, questions remain on the impact of the polymorphism in the tissue, its association with specific races or populations and its possible relation to other genes [26][27][28][29]. It is important to note that admixed populations are particular and involve different gene segregations.…”

Section: Introductionmentioning

confidence: 99%

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

Peña,

De Sanctis,

de Sanctis

et al. 2024

Preprint

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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.

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Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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

Peña,

De Sanctis,

de Sanctis

et al. 2024

Preprint

View full text Add to dashboard Cite

show abstract

“…Nitric oxide metabolites in pregnancy and pregnancy complications have been extensively studied [22,23], including RPL [24][25][26][27][28]. A possible association between endothelial nitric oxide synthase and RPL has been suggested, especially in exon 8, rs1799983 (+894G>T).…”

Section: Introductionmentioning

confidence: 99%

“…A possible association between endothelial nitric oxide synthase and RPL has been suggested, especially in exon 8, rs1799983 (+894G>T). Nonetheless, questions remain about the impact of polymorphism on tissue, its association with specific races or populations, and its possible relation to other genes [25][26][27][28]. It is important to note that admixed populations are particular and involve different gene segregations.…”

Section: Introductionmentioning

confidence: 99%

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

Peña,

De Sanctis,

De Sanctis

et al. 2024

CIMB

View full text Add to dashboard Cite

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 (p < 0.05). Double-mutated homozygotes were encountered only in RPL 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.

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Genetic origins of recurrent miscarriage: A review of the literature

Zaytseva,

Revina,

Shcherbakova

et al. 2023

V.F.Snegirev Archives of Obstetrics and Gynecology

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Currently, recurrent miscarriage is considered a polygenic multifactorial disease, that is, a condition in which the predisposition to miscarriage is related to various genetic factors. The realization of these factors depends largely on the environment. This paper analyzes the current world literature on the effect of single-nucleotide polymorphisms of genes associated with recurrent miscarriage. The literature review summarized data from recent meta-analyses regarding the association between recurrent miscarriage and genetic polymorphisms leading to endothelial dysfunction (vascular endothelial growth factor A gene and endothelial NO synthase genes), hereditary thrombophilia (Leiden mutation and polymorphisms in the methylene tetrahydrofolate reductase gene), immunological disorders (cytokine genes, including interleukin-1 beta, interleukin-6, and tumor necrosis factor alpha), altered receptor interactions in the endometrium (progesterone receptor and ESR1 and ESR2 estrogen receptor genes), and imbalance between lipoproteins of different densities (apolipoprotein E gene). The study of genetic predisposition to miscarriage is necessary to identify high-risk cases, initiate timely and careful monitoring, and develop personalized preventive techniques.

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A meta-analysis for association of eNOS VNTR 4b/a, – 786 T > C and + 894G > T polymorphisms with risk of recurrent pregnancy loss

Cited by 4 publications

References 52 publications

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

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

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

Genetic origins of recurrent miscarriage: A review of the literature

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