Role of Polymorphisms on the Recurrent Pregnancy Loss: A Systematic Review, Meta-analysis and Bioinformatic Analysis

Jalilvand, Amin; Yari, Kheirollah; Heydarpour, Fatemeh

doi:10.1016/j.gene.2022.146804

Cited by 6 publications

(7 citation statements)

References 107 publications

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“…The functional effect prediction of PSAT1 variants showed the c.43G>C variant and the c.235G>A variant were probably damaging (Figure 3 ). Amino acid sequence alignment by the PolyPhen‐2 web server (Du et al., 2021 ; Jalilvand et al., 2022 ; Zhang et al., 2020 ) showed that two variants both occurred at a highly conserved residue in PSAT1 , and the surrounding amino acid residues were highly conserved between species (Figure 4 ). Protein 3D structures drawn with Pymol (Kagami et al., 2020 ; Rosignoli & Paiardini, 2022 ) showed that the variants (p.Ala15Pro and p.Gly79Arg) were damaging to the stability of the PSAT1 protein triple helix (Figures 5 and 6 ).…”

Section: Resultsmentioning

confidence: 99%

Phosphoserine aminotransferase deficiency diagnosed by whole‐exome sequencing and LC–MS/MS reanalysis: A case report and review of literature

Li,

Wei,

Sun

et al. 2024

Molec Gen & Gen Med

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BackgroundPhosphoserine aminotransferase deficiency (PSATD) is an autosomal recessive disorder associated with hypertonia, psychomotor retardation, and acquired microcephaly. Patients with PSATD have low concentrations of serine in plasma and cerebrospinal fluid.MethodsWe reported a 2‐year‐old female child with developmental delay, dyskinesia, and microcephaly. LC–MS/MS was used to detect amino acid concentration in the blood and whole‐exome sequencing (WES) was used to identify the variants. PolyPhen‐2 web server and PyMol were used to predict the pathogenicity and changes in the 3D model molecular structure of protein caused by variants.ResultsWES demonstrated compound heterozygous variants in PSAT1, which is associated with PSATD, with a paternal likely pathogenic variant (c.235G>A, Gly79Arg) and a maternal likely pathogenic variant (c.43G>C, Ala15Pro). Reduced serine concentration in LC–MS/MS further confirmed the diagnosis of PSATD in this patient.ConclusionsOur findings demonstrate the importance of WES combined with LC–MS/MS reanalysis in the diagnosis of genetic diseases and expand the PSAT1 variant spectrum in PSATD. Moreover, we summarize all the cases caused by PSAT1 variants in the literature. This case provides a vital reference for the diagnosis of future cases.

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Section: Resultsmentioning

confidence: 99%

Phosphoserine aminotransferase deficiency diagnosed by whole‐exome sequencing and LC–MS/MS reanalysis: A case report and review of literature

Li,

Wei,

Sun

et al. 2024

Molec Gen & Gen Med

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Section: Discussionmentioning

confidence: 99%

“…The current review focuses on identification of risk factors that are mainly genetic variant types and epigenetic factors; this information might be helpful in exploring further to identify high-risk pregnancies. Previous reviews114,115 have attempted to identify risk factors, but have focused mostly on genetic factors with little information about the epigenetics involved and have described fetal, placental and blood tissues. Whereas, the current review compiles all known maternal genetic/epigenetic risk factors and focuses only on maternal blood, a tissue that can be easily taken for investigation and diagnosis purposes.Most of the investigated genes that are associated with recurrent spontaneous abortion are involved in inflammation, immune tolerance, thrombophilia, and maternal metabolism, along with aberrant expression of certain miRNAs in blood or serum and hypermethylation of the promoter region of certain genes (MTHFR, SGK).…”

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confidence: 99%

Maternal candidate gene variants, epigenetic factors, and susceptibility to idiopathic recurrent pregnancy loss: A systematic review

Kaur

Chhabra³

et al. 2023

Intl J Gynecology & Obste

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BackgroundRecurrent pregnancy loss is defined as the loss of two or more pregnancies and is a distressing condition for couples.ObjectiveTo investigate the relationship between variants in the candidate susceptibility genes and epigenetic factors to identify risk factors for idiopathic recurrent pregnancy loss (iRPL).Search StrategyA systematic literature search was performed using PubMed, Google Scholar, ScienceDirect, and Scopus databases. Insilico analysis was carried out using ShinyGO and STRING software.Selection CriteriaResearch papers examining the association between variations in genetic and epigenetic factors and iRPL.Data Collection and AnalysisData were independently extracted by two authors.Main ResultsIn total, 83 research papers were finally selected for the present study. Among all the genes involved in the pathogenesis of recurrent pregnancy loss, polymorphisms in IL superfamily genes, VEGF, ESR, and MTHFR were the most investigated.ConclusionPolymorphisms in angiogenesis, immune tolerance, and thrombophilia pathway genes, which occur independently or synergistically, may lead to various complications during fetal development. Identification of multi‐allele risk variants and epigenetic factors in women will be helpful in the identification of high‐risk pregnancies.Prospero Registration NumberProspero CRD42021287315.

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“…Several studies reported that abnormal sHLA-G expression is associated with pregnancy complications such as preeclampsia, recurrent miscarriage (RM), and recurrent implantation failure (RIF), and may be further linked to HLA-G polymorphisms (89,90). Some meta-analyses have confirmed the association between HLA-G polymorphisms with susceptibility to preeclampsia (91, 92) and recurrent miscarriage (RM) (93,94). The current systematic review and meta-analysis focused on the implication of the genetic variants responsible for altered HLA-…”

Section: Discussionmentioning

confidence: 99%

Association of parental HLA-G polymorphisms with soluble HLA-G expressions and their roles on recurrent implantation failure: A systematic review and meta-analysis

Zeng

2022

Front. Immunol.

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IntroductionHLA-G plays a central role in immune tolerance at the maternal-fetal interface. The HLA-G gene is characterized by low allelic polymorphism and restricted tissue expression compared with classical HLA genes. HLA-G polymorphism is associated with HLA-G expression and linked to pregnancy complications. However, the association of parental HLA-G polymorphisms with soluble HLA-G (sHLA-G) expression and their roles in recurrent implantation failure (RIF) is unclear. The study aims to systematically review the association of HLA-G polymorphisms with RIF, the association of sHLA-G expression with RIF, and the association of HLA-G polymorphisms with sHLA-G expressions in patients attending in-vitro fertilization (IVF) treatment.MethodsStudies that evaluated the association of HLA-G polymorphisms with RIF, the association between sHLA-G expression with RIF, and the association between HLA-G polymorphisms with sHLA-G expressions in patients attending IVF treatment were included. Meta-analysis was performed by random-effect models. Sensitivity analysis was performed by excluding one study each time. Subgroup analysis was performed based on ethnicity.ResultsHLA-G 14bp ins variant is associated with a lower expression of sHLA-G in seminal or blood plasma of couples attending IVF treatment. The maternal HLA-G*010101 and paternal HLA-G*010102 alleles are associated with RIF risk compared to other alleles. However, single maternal HLA-G 14bp ins/del polymorphism, HLA-G -725 C>G/T polymorphism, or circulating sHLA-G concentration was not significantly associated with RIF in the general population. HLA-G 14bp ins/ins homozygous genotype or ins variant was associated with a higher risk of RIF in the Caucasian population.DiscussionSpecific HLA-G alleles or HLA-G polymorphisms are associated with sHLA-G expression in couples attending IVF treatment. Several HLA-G polymorphisms may be related to RIF, considering different ethnic backgrounds. A combined genetic effect should be considered in future studies to confirm the association of HLA-G polymorphisms and sHLA-G expressions in relation to RIF.

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Role of Polymorphisms on the Recurrent Pregnancy Loss: A Systematic Review, Meta-analysis and Bioinformatic Analysis

Cited by 6 publications

References 107 publications

Phosphoserine aminotransferase deficiency diagnosed by whole‐exome sequencing and LC–MS/MS reanalysis: A case report and review of literature

Phosphoserine aminotransferase deficiency diagnosed by whole‐exome sequencing and LC–MS/MS reanalysis: A case report and review of literature

Maternal candidate gene variants, epigenetic factors, and susceptibility to idiopathic recurrent pregnancy loss: A systematic review

Association of parental HLA-G polymorphisms with soluble HLA-G expressions and their roles on recurrent implantation failure: A systematic review and meta-analysis

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