ArticleAnnals of translational medicine2022
Identification of genetic polymorphisms in unexplained recurrent spontaneous abortion based on whole exome sequencing.
Article in Annals of translational medicine, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 17 citations in OpenAlex.
- MECP2 mutations disrupt pluripotent stem cell fate through remodeling of the three-dimensional genome.Cell death & disease · 2026Article
- miR-146a/b-5p-IRAK1-NF-κB Axis Regulates Unexplained Recurrent Spontaneous Abortion.Journal of molecular recognition : JMR · 2026Article
- A Genetic Landscape of Euploid Miscarriages From Couples With Recurrent Pregnancy Loss Through Whole Exome Sequencing.Molecular genetics & genomic medicine · 2026Article
- Discovery and validation of key genes and potential mechanisms linked to endothelial cell senescence and carbohydrate metabolism in recurrent spontaneous abortion.Open medicine (Warsaw, Poland) · 2026Article
- Functional and clinical evidence for two novel heterozygousFrontiers in endocrinology · 2026Article
- Genomics of pregnancy loss.Journal of assisted reproduction and genetics · 2026Review
- Genetic Association ofInternational journal of molecular sciences · 2025Article
- Cohort Profile: Preconception Reproductive Health and Birth Outcome Cohort (PREBIC) in Chongqing, China.International journal of epidemiology · 2025Article
- Integrated Analysis of WES and scRNA-Seq Data Reveals the Genetic Basis of Immune Dysregulation in Unexplained Recurrent Pregnancy Loss.Journal of clinical laboratory analysis · 2025Article
- Article
- Pathogenic variants ofMolecular biology research communications · 2025Article
- Whole exome sequencing identifies a novel mutation inFrontiers in medicine · 2024Article
- Predicting Infertility: How Genetic Variants in Oocyte Spindle Genes Affect Egg Quality.Advances in anatomy, embryology, and cell biology · 2024Review
- Understanding recurrent pregnancy loss: recent advances on its etiology, clinical diagnosis, and management.Medical review (2021) · 2022Review
Corrections and comments
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Authors and funding
7 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Background: The precise etiology of approximately 50% of patients with recurrent spontaneous abortion (RSA) is unclear, known as unexplained recurrent spontaneous abortion (URSA). This study identified the genetic polymorphisms in patients with URSA. Methods: Genomic DNA was extracted from 30 couples with URSA and 9 couples with normal reproductive history for whole exome sequencing. Variations in annotation, filtering, and prediction of harmfulness and pathogenicity were examined. Furthermore, predictions of the effects of changes in protein structure, Sanger validation, and functional enrichment analyses were performed. The missense mutated genes with significant changes in protein function, and genes with mutations of premature stop, splice site, frameshift, and in-frame indel were selected as candidate mutated genes related to URSA. Results: In 30 unrelated couples with URSA, 50%, 20%, and 30% had 2, 3, and more than 4 miscarriages, respectively. Totally, 971 maternal and 954 paternal mutations were found to be pathogenic or possibly pathogenic after preliminary filtering. Total variations were not associated with age nor the number of miscarriages. In 28 patients (involving 23 couples), 22 pathogenic or possibly pathogenic variants of 19 genes were found to be strongly associated with URSA, with an abnormality rate of 76.67%. Among these, 12 missense variants showed obvious changes in protein functions, including Conclusions: These pathogenic or potentially pathogenic mutated genes may be potential biomarkers for URSA and may play an auxiliary role in the treatment of URSA.
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