Congenital heart disease risk loci identified by genome-wide association study in European patients.

doi:10.1172/JCI141837

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Article

Congenital heart disease risk loci identified by genome-wide association study in European patients.

The Journal of clinical investigation - 19 Jan 2021

Lahm Harald, Jia Meiwen, Dreßen Martina, Wirth Felix, Puluca Nazan, Gilsbach Ralf, Keavney Bernard D, Cleuziou Julie, Beck Nicole, Bondareva Olga, Dzilic Elda, Burri Melchior, König Karl C, Ziegelmüller Johannes A, Abou-Ajram Claudia, Neb Irina, Zhang Zhong, Doppler Stefanie A, Mastantuono Elisa, Lichtner Peter, Eckstein Gertrud, Hörer Jürgen, Ewert Peter, Priest James R, Hein Lutz, Lange Rüdiger, Meitinger Thomas, Cordell Heather J, Müller-Myhsok Bertram, Krane Markus

Abstract excerpt

Genetic factors undoubtedly affect the development of congenital heart disease (CHD) but still remain ill defined. We sought to identify genetic risk factors associated with CHD and to accomplish a functional analysis of SNP-carrying genes. We performed a genome-wide association study (GWAS) of 4034 White patients with CHD and 8486 healthy controls. One SNP on chromosome 5q22.2 reached genome-wide significance...

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PMID: 33201861
DOI: 10.1172/JCI141837
PMCID: PMC7810487

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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