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Epigenetic Findings in Twins with Esophageal Atresia.
Bloch, Michal; Gasperowicz, Piotr; Gerus, Sylwester; Rasiewicz, Katarzyna; Lebioda, Arleta; Skiba, Pawel; Ploski, Rafal; Patkowski, Dariusz; Karpinski, Pawel; Smigiel, Robert.
Afiliação
  • Bloch M; Department of Family and Pediatric Nursing, Wroclaw Medical University, 51-618 Wroclaw, Poland.
  • Gasperowicz P; Department of Medical Genetics, Medical University of Warsaw, 04-768 Warsaw, Poland.
  • Gerus S; Department of Pediatric Surgery and Urology, Medical University of Wroclaw, 51-618 Wroclaw, Poland.
  • Rasiewicz K; Department of Pediatric Surgery and Urology, Medical University of Wroclaw, 51-618 Wroclaw, Poland.
  • Lebioda A; Division of Molecular Techniques, Department of Forensic Medicine, Wroclaw Medical University, 51-618 Wroclaw, Poland.
  • Skiba P; Department of Genetics, Wroclaw Medical University, 51-618 Wroclaw, Poland.
  • Ploski R; Department of Medical Genetics, Medical University of Warsaw, 04-768 Warsaw, Poland.
  • Patkowski D; Department of Pediatric Surgery and Urology, Medical University of Wroclaw, 51-618 Wroclaw, Poland.
  • Karpinski P; Department of Genetics, Wroclaw Medical University, 51-618 Wroclaw, Poland.
  • Smigiel R; Department of Pediatrics, Endocrinology, Diabetology and Metabolic Diseases, Medical University of Wroclaw, 51-618 Wroclaw, Poland.
Genes (Basel) ; 14(9)2023 09 20.
Article em En | MEDLINE | ID: mdl-37761962
ABSTRACT
Esophageal atresia (EA) is the most common malformation of the upper gastrointestinal tract. The estimated incidence of EA is 1 in 3500 births. EA is more frequently observed in boys and in twins. The exact cause of isolated EA remains unknown; a multifactorial etiology, including epigenetic gene expression modifications, is considered. The study included six pairs of twins (three pairs of monozygotic twins and three pairs of dizygotic twins) in which one child was born with EA as an isolated defect, while the other twin was healthy. DNA samples were obtained from the blood and esophageal tissue of the child with EA as well as from the blood of the healthy twin. The reduced representation bisulfite sequencing (RRBS) technique was employed for a whole-genome methylation analysis. The analyses focused on comparing the CpG island methylation profiles between patients with EA and their healthy siblings. Hypermethylation in the promoters of 219 genes and hypomethylation in the promoters of 78 genes were observed. A pathway enrichment analysis revealed the statistically significant differences in methylation profile of 10 hypermethylated genes in the Rho GTPase pathway, previously undescribed in the field of EA (ARHGAP36, ARHGAP4, ARHGAP6, ARHGEF6, ARHGEF9, FGD1, GDI1, MCF2, OCRL, and STARD8).
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Texto completo: 1 Coleções: 01-internacional Temas: Geral Base de dados: MEDLINE Assunto principal: Atresia Esofágica Tipo de estudo: Diagnostic_studies Limite: Child / Humans / Male Idioma: En Revista: Genes (Basel) Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Polônia

Texto completo: 1 Coleções: 01-internacional Temas: Geral Base de dados: MEDLINE Assunto principal: Atresia Esofágica Tipo de estudo: Diagnostic_studies Limite: Child / Humans / Male Idioma: En Revista: Genes (Basel) Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Polônia