UNIGE document Doctoral Thesis
previous document  unige:33250  next document
add to browser collection

Genetic variability and epigenetic alterations in Down syndrome with congenital heart defects

Defense Thèse de doctorat : Univ. Genève, 2013 - Sc. 4629 - 2013/12/12
Abstract This study aims to identify the genetic and epigenetic determinants of congenital heart defect (CHD) in Down syndrome (DS). We hypothesized that trisomy 21 in concert with additional genetic and epigenetic variations contribute to the risk of CHD in DS. Association studies were performed in samples from DS with and without CHD to identify genome-wide SNPs and chromosome 21 specific CNVs associated with CHD. The results revealed two SNPs and two CNVs on chromosome 21 that may modify the CHD risk in DS. Furthermore, a monozygotic twin approach was used to elucidate the role of trisomy 21 in DNA methylation modifications. Reduced representation bisulphite sequencing (RRBS) revealed differentially methylated regions in promoters of genes involved in embryonic organ morphogenesis relevant to DS phenotypes including CHD. In summary, the results of this work support a multifactorial model for development of CHD in DS that includes trisomy 21, SNPs, CNVs, and DNA methylation modifications.
Keywords Down syndromeCongenital heart defectGenetic variationDNA methylation
URN: urn:nbn:ch:unige-332506
Full text
Thesis (5.1 MB) - public document Free access
Research group Unité d'anthropologie
(ISO format)
SAILANI, Mohammad Reza. Genetic variability and epigenetic alterations in Down syndrome with congenital heart defects. Université de Genève. Thèse, 2013. doi: 10.13097/archive-ouverte/unige:33250 https://archive-ouverte.unige.ch/unige:33250

866 hits



Deposited on : 2014-01-15

Export document
Format :
Citation style :