Susceptibility to Heart Defects in Down Syndrome Is Associated with Single Nucleotide Polymorphisms in HAS 21 Interferon Receptor Cluster and VEGFA Genes.
Carmela Rita BalistreriClaudia Leonarda AmmoscatoLetizia ScolaTiziana FragapaneRosa Maria GiarratanaDomenico LioMaria PiccionePublished in: Genes (2020)
We identified some candidate risk SNPs for CHDs and acquired heart defects in DS. Our data suggest that a complex architecture of risk alleles with interplay effects may contribute to the high variability of DS phenotypes.