Association of endothelial nitric oxide synthase gene variants (-786 T&gt;C, intron 4 b/a VNTR and 894 G&gt;T) with idiopathic recurrent pregnancy loss: A case-control study with haplotype and in silico analysis

Azani, Alireza; Hosseinzadeh, Ali; Azadkhah, Roya; Zonouzi, Ali Akbar Poursadegh; Zonouzi, Ahmad Poursadegh; Aftabi, Younes; Khani, Hadi; Heidary, Leida; Danaii, Shahla; Bargahi, Nasrin; Pouladi, Nasser; Hosseini, Sayed Mostafa

doi:10.1016/j.ejogrb.2017.05.024

Cited by 21 publications

(19 citation statements)

References 40 publications

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“…Our results agree with Luo et al [29], Parveen et al [31] and Almawi et al [32], that revealed a significant association between the rs1799983 genotype distribution in recurrent miscarriage patients. In these studies, women with recurrent spontaneous abortion had a significantly higher frequency of G/T genotype and lower frequency of the G allele compared to control women.…”

Section: Nos3 Genesupporting

confidence: 93%

“…NOS3 rs1799983 SNP results in a substitution of glutamic acid by aspartic acid at amino acid position 298 (Glu298Asp). The Glu298Asp polymorphism was reported as associated with altered NOS3 enzyme activity, reduced nitric oxide production, and reduction blunted endothelial-dependent vasodilation [28,29]. However, the rs1799983 SNP has been classified as "Conflicting interpretations of pathogenicity, risk factor" in the ClinVar database (https://www.ncbi.nlm.nih.gov/clinvar/variation/14015/#clinicalassertions), so its functional impact is still debated.…”

Section: Nos3 Genementioning

confidence: 99%

“…The reduced NO production may predispose pregnant women to pregnancy-related vascular disorders, including pre-eclampsia, placental abruption, recurrent spontaneous abortion [29,30] and spontaneous preterm birth [33], and also can lead to impaired placental perfusion and a compromised oxygen and nutrient supply to the fetus which might affect the ability of the embryo to resist maternal rejection in pregnancy [31].…”

Section: Nos3 Genementioning

confidence: 99%

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Influence of MBL2 and NOS3 polymorphisms on spontaneous preterm birth in North East Brazil: genetics and preterm birth

Silva

Javorski

Brandão

et al. 2018

The Journal of Maternal-Fetal & Neonatal Medicine

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Our study, limited by the small number of patients enrolled, indicates that MBL2 and NOS3 functional SNPs are associated with the occurrence of spontaneous prematurity and the regulation of the maternal inflammatory response. Despite these results are in agreement with previously reports, our findings do not replicate the ones reported in a large genome-wide association study performed on quite high number of subjects. Thus, we can conclude that MBL2 and NOS3 functional SNPs are plausible candidate risk factors just in few preterm birth cases, and consequently they cannot be included in the general diagnostic practice.

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Section: Nos3 Genesupporting

confidence: 93%

Section: Nos3 Genementioning

confidence: 99%

Section: Nos3 Genementioning

confidence: 99%

See 1 more Smart Citation

Influence of MBL2 and NOS3 polymorphisms on spontaneous preterm birth in North East Brazil: genetics and preterm birth

Silva

Javorski

Brandão

et al. 2018

The Journal of Maternal-Fetal & Neonatal Medicine

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“…Nitric oxide synthases (NOSs) are responsible for the generation of soluble NO from l ‐arginine (Shin et al, ). It has been observed that there were significant higher frequencies of eNOS −786 T>C variants and eNOS −786C alleles among a subpopulation of Iranian RPL cases compared with healthy subjects in which the eNOS −786C allele increased the risk of early pregnancy loss (Azani et al, ). Since the normal pregnancy requires sufficient fetal placental circulation, reduced vascular development can be correlated with early pregnancy loss (Reynolds & Redmer, ).…”

Section: Angiogenesismentioning

confidence: 99%

Genetics of recurrent pregnancy loss among Iranian population

Moghbeli

2019

Molec Gen & Gen Med

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Background Recurrent pregnancy loss (RPL) is one of the most common reproductive disorders which is defined as the occurrence of recurrent miscarriage before 24 weeks of gestation and is observed among 1%–5% of women. Methods Various factors are associated with RPL such as immunological disorders, maternal age, obesity, alcohol, chromosomal abnormality, endocrine disorders, and uterine abnormalities. About half of the RPL cases are related with chromosomal abnormalities. Therefore, RPL genetic tests are mainly limited to karyotyping. However, there is a significant proportion of RPL cases without any chromosomal abnormalities that can be related to the single‐gene aberrations. Therefore, it is required to prepare a diagnostic panel of genetic markers besides karyotyping. Results In the present review, we have summarized all the significant reported genes until now which are associated with RPL among Iranian women. We categorized all the reported genes based on their cellular and molecular functions in order to determine the molecular bases of RPL in this population. Conclusion This review paves the way of introducing a population‐based diagnostic panel of genetic markers for the first time among Iranian RPL cases. Moreover, this review clarifies the genetic and molecular bases of RPL in this population.

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“…The endothelial nitric oxide synthase (eNOS) gene plays a key role in the uterine and placental angiogenesis and is known to be expressed in the syncytiotrophoblasts and villus blood vessels during pregnancy. SNP of this gene could alter the gene expression resulting in RM (Zhao et al, 2019;Azani et al, 2017). DNA methylation is important for gametogenesis and pregnancy continuation.…”

Section: Single Nucleotide Polymorphismmentioning

confidence: 99%

Overview of genetic causes of recurrent miscarriage and the diagnostic approach

Atia¹

2019

Biocell

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Recurring miscarriage (RM) is a frustrating reproductive complication with variable etiology. Numerous genetic defects have been known to play a crucial role in the etiology of RM. Chromosomal abnormalities are frequently detected, while other genetic defects cannot be diagnosed through routine research, such as cryptic chromosomal anomalies, single nucleotide polymorphism, single-gene defect, and gene copy number variation.Diagnostic laboratories have recently used variable advanced techniques to detect potential genetic abnormalities in couples with RM and/or in products of conception. Here we aim to summarize the known genetic causes of RM, with a focus on the new diagnostic techniques. Knowledge of the genetic profile of miscarriages is important for prognosis and potential counseling planning, as well as the prenatal diagnostic strategy in subsequent pregnancies.

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Association of endothelial nitric oxide synthase gene variants (-786 T>C, intron 4 b/a VNTR and 894 G>T) with idiopathic recurrent pregnancy loss: A case-control study with haplotype and in silico analysis

Cited by 21 publications

References 40 publications

Influence of MBL2 and NOS3 polymorphisms on spontaneous preterm birth in North East Brazil: genetics and preterm birth

Influence of MBL2 and NOS3 polymorphisms on spontaneous preterm birth in North East Brazil: genetics and preterm birth

Genetics of recurrent pregnancy loss among Iranian population

Overview of genetic causes of recurrent miscarriage and the diagnostic approach

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