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Titel:

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

Dokumenttyp:
Clinical Trial; Journal Article; Multicenter Study; Research Support, Non-U.S. Gov't
Autor(en):
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, Mar...     »
Abstract:
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 across all CHD phenotypes and was also indicative for septal defects. One region on ch...     »
Zeitschriftentitel:
J Clin Invest
Jahr:
2021
Band / Volume:
131
Heft / Issue:
2
Volltext / DOI:
doi:10.1172/JCI141837
PubMed:
http://view.ncbi.nlm.nih.gov/pubmed/33201861
Print-ISSN:
0021-9738
TUM Einrichtung:
Institut für Humangenetik; Klinik für Herz- und Gefäßchirurgie (Prof. Lange); Klinik für Kinderkardiologie und angeborene Herzfehler (Prof. Hess)
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