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• W3100072693 startingPage "139" @default.
• W3100072693 abstract "High frequency of aneuploidy in meiosis and cleavage stage coincides with waves of epigenetic genome reprogramming that may indicate a possible association between epigenetic mechanisms and aneuploidy occurrence. This study aimed to assess the methylation level of the long interspersed repeat element 1 (LINE-1) retrotransposon in chorionic villi of first trimester miscarriages with a normal karyotype and aneuploidy.The methylation level was assessed at 19 LINE-1 promoter CpG sites in chorionic villi of 141 miscarriages with trisomy of chromosomes 2, 6, 8-10, 13-15, 16, 18, 20-22, and monosomy X using massive parallel sequencing.The LINE-1 methylation level was elevated statistically significant in chorionic villi of miscarriages with both trisomy (45.2 ± 4.3%) and monosomy X (46.9 ± 4.2%) compared with that in induced abortions (40.0 ± 2.4%) (p < 0.00001). The LINE-1 methylation levels were specific for miscarriages with different aneuploidies and significantly increased in miscarriages with trisomies 8, 14, and 18 and monosomy X (p < 0.05). The LINE-1 methylation level increased with gestational age both for group of miscarriages regardless of karyotype (R = 0.21, p = 0.012) and specifically for miscarriages with trisomy 16 (R = 0.48, p = 0.007). LINE-1 methylation decreased with maternal age in miscarriages with a normal karyotype (R = - 0.31, p = 0.029) and with trisomy 21 (R = - 0.64, p = 0.024) and increased with paternal age for miscarriages with trisomy 16 (R = 0.38, p = 0.048) and monosomy X (R = 0.73, p = 0.003).Our results indicate that the pathogenic effects of aneuploidy in human embryogenesis can be supplemented with significant epigenetic changes in the repetitive sequences." @default.
• W3100072693 created "2020-11-23" @default.
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• W3100072693 date "2020-11-10" @default.
• W3100072693 modified "2023-09-26" @default.
• W3100072693 title "LINE-1 retrotransposon methylation in chorionic villi of first trimester miscarriages with aneuploidy" @default.
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• W3100072693 doi "https://doi.org/10.1007/s10815-020-02003-1" @default.
• W3100072693 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/7823001" @default.
• W3100072693 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/33170392" @default.
• W3100072693 hasPublicationYear "2020" @default.
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