ArticleHuman mutation2014
Structural genomic variation as risk factor for idiopathic recurrent miscarriage.
Article in Human mutation, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
20 citing papers in PubMed, 40 citations in OpenAlex.
- Extensive load of somatic CNVs in the human placenta.Scientific reports · 2015Trial
- Genome-Wide Association Study of Daughter Pregnancy Rate in Crossbred Dairy Cows.International journal of molecular sciences · 2025Article
- Genetic analysis of chorionic villus tissues in early missed abortions.Scientific reports · 2023Article
- Microdeletions and microduplications linked to severe congenital disorders in infertile men.Scientific reports · 2023Article
- Article
- Identification of Single Nucleotide Polymorphisms as Biomarkers for Recurrent Pregnancy Loss in Korean Women.Journal of Korean medical science · 2022Article
- Chromosomal Copy Number Variation Analysis in Pregnancy Products from Recurrent and Sporadic Miscarriage Using Next-Generation Sequencing.Reproductive sciences (Thousand Oaks, Calif.) · 2022Article
- Copy number variations in patients with idiopathic recurrent pregnancy loss: an arrayCGH approach.Turkish journal of medical sciences · 2022Article
- Recurrent Pregnancy Loss and Concealed Long-QT Syndrome.Journal of the American Heart Association · 2021Article
- Characterization of Copy-Number Variations and Possible Candidate Genes in Recurrent Pregnancy Losses.Genes · 2021Article
- Polymorphisms Within DNA Double-Strand Breaks Repair-Related Genes Contribute to Structural Chromosome Abnormality in Recurrent Pregnancy Loss.Frontiers in genetics · 2021Article
- Screening of triploid with low-coverage whole-genome sequencing by a single-nucleotide polymorphism-based test in miscarriage tissue.Journal of assisted reproduction and genetics · 2019Article
- Novel high-coverage targeted metabolomics method (SWATHtoMRM) for exploring follicular fluid metabolome alterations in women with recurrent spontaneous abortion undergoing in vitro fertilization.Scientific reports · 2019Article
- Copy number variation profile in the placental and parental genomes of recurrent pregnancy loss families.Scientific reports · 2017Article
- RNA sequencing of chorionic villi from recurrent pregnancy loss patients reveals impaired function of basic nuclear and cellular machinery.Scientific reports · 2016Article
- Copy number analysis of whole-genome data using BIC-seq2 and its application to detection of cancer susceptibility variants.Nucleic acids research · 2016Article
- Whole exome sequencing in recurrent early pregnancy loss.Molecular human reproduction · 2016Article
- Genomic characteristics of miscarriage copy number variants.Molecular human reproduction · 2015Article
- Annexin A5 Promoter Haplotype M2 Is Not a Risk Factor for Recurrent Pregnancy Loss in Northern Europe.PloS one · 2015Article
- Functional consequences of copy number variants in miscarriage.Molecular cytogenetics · 2015Article
Corrections and comments
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Authors and funding
10 authors at 5 institutions in 5 countries.
Funding
Abstract
Recurrent miscarriage (RM) is a multifactorial disorder with acknowledged genetic heritability that affects ∼3% of couples aiming at childbirth. As copy number variants (CNVs) have been shown to contribute to reproductive disease susceptibility, we aimed to describe genome-wide profile of CNVs and identify common rearrangements modulating risk to RM. Genome-wide screening of Estonian RM patients and fertile controls identified excessive cumulative burden of CNVs (5.4 and 6.1 Mb per genome) in two RM cases possibly increasing their individual disease risk. Functional profiling of all rearranged genes within RM study group revealed significant enrichment of loci related to innate immunity and immunoregulatory pathways essential for immune tolerance at fetomaternal interface. As a major finding, we report a multicopy duplication (61.6 kb) at 5p13.3 conferring increased maternal risk to RM in Estonia and Denmark (meta-analysis, n = 309/205, odds ratio = 4.82, P = 0.012). Comparison to Estonian population-based cohort (total, n = 1000) confirmed the risk for Estonian female cases (P = 7.9 × 10(-4) ). Datasets of four cohorts from the Database of Genomic Variants (total, n = 5,846 subjects) exhibited similar low duplication prevalence worldwide (0.7%-1.2%) compared to RM cases of this study (6.6%-7.5%). The CNV disrupts PDZD2 and GOLPH3 genes predominantly expressed in placenta and it may represent a novel risk factor for pregnancy complications.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.