ArticleJournal of assisted reproduction and genetics2026
Identification of candidate genes associated with mitotic-origin aneuploidy: a genome-wide association study.
Article in Journal of assisted reproduction and genetics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
purposeAneuploidy is the most common genetic abnormality in human embryos and is one of the leading causes of embryo transfer failure. We aimed to identify candidate genes linked to mitotic-origin aneuploidy.
methodsA control group of 588 euploid embryos and a case group of 236 mosaic embryos were utilized. Sequence alignment was first conducted to identify single nucleotide polymorphism (SNP) loci. Quality control (QC) and principal component analysis (PCA) were then performed to filter the SNPs and samples. The association test was carried out to identify significant variants. Fine mapping and gene sorting were used to screen and sort the candidate genes.
resultsFollowing variant identification, 10,650,011 SNPs were detected in 824 enrolled embryos. After quality control (QC), principal component analysis (PCA), and imputation, 496,728 SNPs across 762 embryos (226 cases and 536 controls) were retained. Association analysis identified 70 SNPs reaching genome-wide significance (p < 5e
conclusionIn this study, we performed genome-wide association analysis on embryonic sequencing data and identified EMP2 on chromosome 16 as a potential gene implicated in mitotic-origin aneuploidy. Further verification experiments are required to confirm the functions of candidate genes during embryogenesis.
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