| Autor: |
Krzyzewska IM; Genome Diagnostics Laboratory, Department of Human Genetics, Amsterdam University Medical Centers, University of Amsterdam, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands., Lauffer P; Department of Clinical Genetics, Amsterdam University Medical Centers, University of Amsterdam, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands., Mul AN; Genome Diagnostics Laboratory, Department of Human Genetics, Amsterdam University Medical Centers, University of Amsterdam, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands., van der Laan L; Genome Diagnostics Laboratory, Department of Human Genetics, Amsterdam University Medical Centers, University of Amsterdam, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands., Yim AYFL; Genome Diagnostics Laboratory, Department of Human Genetics, Amsterdam University Medical Centers, University of Amsterdam, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands., Cobben JM; Department of Pediatric Endocrinology and Faculty of Medicine, Northwest Thames Regional Genetics NHS, Imperial College, London SW7 2BX, UK., Niklinski J; Department of Molecular Biology, Medical University of Bialystok, Jana Kilińskiego 1, 15-089 Białystok, Poland., Chomczyk MA; Department of Molecular Biology, Medical University of Bialystok, Jana Kilińskiego 1, 15-089 Białystok, Poland., Smigiel R; Department of Genetics, Medical University of Wroclaw, Wybrzeże Ludwika Pasteura 1, 50-367 Wrocław, Poland., Mannens MMAM; Genome Diagnostics Laboratory, Department of Human Genetics, Amsterdam University Medical Centers, University of Amsterdam, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands., Henneman P; Genome Diagnostics Laboratory, Department of Human Genetics, Amsterdam University Medical Centers, University of Amsterdam, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands. |
| Abstrakt: |
Fetal alcohol spectrum disorder (FASD) encompasses neurodevelopmental disabilities and physical birth defects associated with prenatal alcohol exposure. Previously, we attempted to identify epigenetic biomarkers for FASD by investigating the genome-wide DNA methylation (DNAm) profiles of individuals with FASD compared to healthy controls. In this study, we generated additional gene expression profiles in a subset of our previous FASD cohort, encompassing the most severely affected individuals, to examine the functional integrative effects of altered DNAm status on gene expression. We identified six differentially methylated regions (annotated to the SEC61G , REEP3 , ZNF577 , HNRNPF , MSC, and SDHAF1 genes) associated with changes in gene expression ( p -value < 0.05). To the best of our knowledge, this study is the first to assess whole blood gene expression and DNAm-gene expression associations in FASD. Our results present novel insights into the molecular footprint of FASD in whole blood and opens opportunities for future research into multi-omics biomarkers for the diagnosis of FASD. |
