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Article

Susceptibility to Heart Defects in Down Syndrome Is Associated with Single Nucleotide Polymorphisms in HAS 21 Interferon Receptor Cluster and VEGFA Genes.

Genes - 28 Nov 2020

Balistreri Carmela Rita, Ammoscato Claudia Leonarda, Scola Letizia, Fragapane Tiziana, Giarratana Rosa Maria, Lio Domenico, Piccione Maria

Abstract excerpt

BACKGROUND: Congenital heart defects (CHDs) are present in about 40-60% of newborns with Down syndrome (DS). Patients with DS can also develop acquired cardiac disorders. Mouse models suggest that a critical 3.7 Mb region located on human chromosome 21 (HSA21) could explain the association with CHDs. This region includes a cluster of genes (IFNAR1, IFNAR2, IFNGR2, IL10RB) encoding for interferon receptors...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 33260695
DOI: 10.3390/genes11121428
PMCID: PMC7761327

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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