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Article

Genome-Wide Association Study of Down Syndrome-Associated Atrioventricular Septal Defects.

G3 (Bethesda, Md.) - 20 Jul 2015

Ramachandran Dhanya, Zeng Zhen, Locke Adam E, Mulle Jennifer G, Bean Lora J H, Rosser Tracie C, Dooley Kenneth J, Cua Clifford L, Capone George T, Reeves Roger H, Maslen Cheryl L, Cutler David J, Feingold Eleanor, Sherman Stephanie L, Zwick Michael E

Abstract excerpt

The goal of this study was to identify the contribution of common genetic variants to Down syndrome-associated atrioventricular septal defect, a severe heart abnormality. Compared with the euploid population, infants with Down syndrome, or trisomy 21, have a 2000-fold increased risk of presenting with atrioventricular septal defects. The cause of this increased risk remains elusive. Here we present data from the...

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

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Identifiers

PMID: 26194203
DOI: 10.1534/g3.115.019943
PMCID: PMC4592978

Genes

KCNJ6
PDXK

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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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