ArticlePLoS genetics2019
A candidate gene analysis and GWAS for genes associated with maternal nondisjunction of chromosome 21.
Article in PLoS genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 33 citations in OpenAlex.
- Infertility following trisomic pregnancies: A nationwide cohort study.International journal of gynaecology and obstetrics: the official organ of the International Federation of Gynaecology and Obstetrics · 2025Article
- Metabolomics of mothers of children with autism, idiopathic developmental delay, and Down syndrome.Scientific reports · 2024Article
- Variant in the synaptonemal complex protein SYCE2 associates with pregnancy loss through effect on recombination.Nature structural & molecular biology · 2024Article
- Population monitoring of trisomy 21: problems and approaches.Molecular cytogenetics · 2023Review
- Prdm9 deficiency of rat oocytes causes synapsis among non-homologous chromosomes and aneuploidy.Mammalian genome : official journal of the International Mammalian Genome Society · 2022Article
- Article
- Understanding etiology of chromosome 21 nondisjunction from gene × environment models.Scientific reports · 2021Article
- Rad21l1 cohesin subunit is dispensable for spermatogenesis but not oogenesis in zebrafish.PLoS genetics · 2021Article
- Genome diversity and instability in human germ cells and preimplantation embryos.Seminars in cell & developmental biology · 2021Article
- Origins and mechanisms leading to aneuploidy in human eggs.Prenatal diagnosis · 2021Article
- The etiology of Down syndrome: Maternal MCM9 polymorphisms increase risk of reduced recombination and nondisjunction of chromosome 21 during meiosis I within oocyte.PLoS genetics · 2021Article
- Interplay between Pds5 and Rec8 in regulating chromosome axis length and crossover frequency.Science advances · 2021Article
- Failure to recombine is a common feature of human oogenesis.American journal of human genetics · 2021Article
- Meiotic Cohesin and Variants Associated With Human Reproductive Aging and Disease.Frontiers in cell and developmental biology · 2021Review
- Single-cell analysis of human embryos reveals diverse patterns of aneuploidy and mosaicism.Genome research · 2020Article
- Down syndrome.Nature reviews. Disease primers · 2020Review
Corrections and comments
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Authors and funding
7 authors at 4 institutions in 2 countries.
Funding
Abstract
Human nondisjunction errors in oocytes are the leading cause of pregnancy loss, and for pregnancies that continue to term, the leading cause of intellectual disabilities and birth defects. For the first time, we have conducted a candidate gene and genome-wide association study to identify genes associated with maternal nondisjunction of chromosome 21 as a first step to understand predisposing factors. A total of 2,186 study participants were genotyped on the HumanOmniExpressExome-8v1-2 array. These participants included 749 live birth offspring with standard trisomy 21 and 1,437 parents. Genotypes from the parents and child were then used to identify mothers with nondisjunction errors derived in the oocyte and to establish the type of error (meiosis I or meiosis II). We performed a unique set of subgroup comparisons designed to leverage our previous work suggesting that the etiologies of meiosis I and meiosis II nondisjunction differ for trisomy 21. For the candidate gene analysis, we selected genes associated with chromosome dynamics early in meiosis and genes associated with human global recombination counts. Several candidate genes showed strong associations with maternal nondisjunction of chromosome 21, demonstrating that genetic variants associated with normal variation in meiotic processes can be risk factors for nondisjunction. The genome-wide analysis also suggested several new potentially associated loci, although follow-up studies using independent samples are required.
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