Gene Variations Identified as Risk Factors in Trisomy 21

(University of Geneva, June 26, 2013)

Down’s syndrome (trisomy 21) is often accompanied by conditions like Alzheimer's disease, leukemia, or cardiac impairment that affect the general population. Researchers at the Faculty of Medicine of the University of Geneva have identified two genomic variations associated with trisomy 21 that determine the risk of congenital heart disease in people with Down’s syndrome. These results, published in Genome Research, build on the team’s previous research on chronic myeloid leukemia, published in the journal Blood. While the presence of a third gene on the No. 21 chromosome, characterizing Down’s syndrome, increases the risk of heart disease, gene variations (polymorphisms), genetic and environmental factors also contribute. Two types of polymorphism play key roles: single-nucleotide polymorphisms (SNP) and copy number variation (CNV).