Cathrine Carlsen Bach

Microarray-Based Analysis of Methylation of 1st Trimester Trisomic Placentas from Down Syndrome, Edwards Syndrome and Patau Syndrome

Publikation: Bidrag til tidsskrift/Konferencebidrag i tidsskrift /Bidrag til avisTidsskriftartikelForskningpeer review

  • Lotte Hatt, Department of Clinical Genetics, Vejle Hospital, Kabbeltoft 25, 7100 Vejle, Denmark., Syddansk Universitet
  • ,
  • Mads M Aagaard, Department of Clinical Genetics, Vejle Hospital, Kabbeltoft 25, 7100 Vejle, Denmark.
  • ,
  • Cathrine Bach
  • Jesper Graakjaer, Department of Clinical Genetics, Vejle Hospital, Kabbeltoft 25, 7100 Vejle, Denmark.
  • ,
  • Steffen Sommer
  • ,
  • Inge E Agerholm
  • ,
  • Steen Kølvraa, Department of Clinical Genetics, Vejle Hospital, Kabbeltoft 25, 7100 Vejle, Denmark.
  • ,
  • Anders Bojesen

Methylation-based non-invasive prenatal testing of fetal aneuploidies is an alternative method that could possibly improve fetal aneuploidy diagnosis, especially for trisomy 13(T13) and trisomy 18(T18). Our aim was to study the methylation landscape in placenta DNA from trisomy 13, 18 and 21 pregnancies in an attempt to find trisomy-specific methylation differences better suited for non-invasive prenatal diagnosis. We have conducted high-resolution methylation specific bead chip microarray analyses assessing more than 450,000 CpGs analyzing placentas from 12 T21 pregnancies, 12 T18 pregnancies and 6 T13 pregnancies. We have compared the methylation landscape of the trisomic placentas to the methylation landscape from normal placental DNA and to maternal blood cell DNA. Comparing trisomic placentas to normal placentas we identified 217 and 219 differentially methylated CpGs for CVS T18 and CVS T13, respectively (delta β>0.2, FDR<0.05), but only three differentially methylated CpGs for T21. However, the methylation differences was only modest (delta β<0.4), making them less suitable as diagnostic markers. Gene ontology enrichment analysis revealed that the gene set connected to theT18 differentially methylated CpGs was highly enriched for GO terms related to"DNA binding" and "transcription factor binding" coupled to the RNA polymerase II transcription. In the gene set connected to the T13 differentially methylated CpGs we found no significant enrichments.

OriginalsprogEngelsk
Artikelnummere0160319
TidsskriftPLOS ONE
Vol/bind11
Nummer8
Antal sider11
ISSN1932-6203
DOI
StatusUdgivet - 2016

Se relationer på Aarhus Universitet Citationsformater

ID: 103166072