LETTER TO JMG

Low expression VEGF haplotype increases the risk for tetralogy of Fallot: a family based association study

D Lambrechts¹, K Devriendt³, D A Driscoll⁴, E Goldmuntz⁵, M Gewillig³, R Vlietinck², D Collen¹, P Carmeliet¹

¹ The Center for Transgene Technology and Gene Therapy, Flanders Interuniversity Institute for Biotechnology, Leuven, Belgium
² Division of Population Genetics and Bioinformatics, University of Maastricht, The Netherlands
³ The Center for Human Genetics and Department of Pediatrics, Katholieke Universiteit Leuven, Leuven, Belgium
⁴ Division of Human Genetics and Molecular Biology, University of Pennsylvania School of Medicine, Philadelphia, PA, USA
⁵ Division of Pediatric Cardiology, Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia, PA, USA

Correspondence to:
Correspondence to:
Professor Peter Carmeliet
The Center for Transgene Technology and Gene Therapy, Flanders Interuniversity Institute for Biotechnology, KULeuven, Herestraat 49, Leuven, B-3000, Belgium; peter.carmeliet@med.kuleuven.ac.be

Received 13 August 2004
Revised version received 19 October 2004

Abbreviations: CHD, congenital heart disease; DGS, DiGeorge syndrome; SNP, single nucleotide polymorphism; TDT, transmission disequilibrium test; TGA, transposition of the great arteries; TOF, tetralogy of Fallot; VEGF, vascular endothelial growth factor; VSD, ventricular septum defect

Keywords: congenital heart disease; genetic risk factor; tetralogy of Fallot; vascular endothelial growth factor

The first 150 words of the full text of this article appear below.

Congenital heart disease (CHD) presents a huge medical problem, as it affects between two and eight newborn children per 100 live births.¹ Risk factors include alcohol and drug consumption as well as genetic defects. However, chromosomal and single gene defects cause only a relatively minor proportion of cases and, thus, most CHD is considered to be multi-factorial in origin, with various genes interacting with each other or with environmental factors to determine disease liability.² To date, none of the CHD genetic susceptibility factors have been discovered.

Tetralogy of Fallot (TOF) is a common form of CHD, characterised by a subaortic ventricular septum defect (VSD), an overriding aorta, a right ventricular outflow tract obstruction, and right ventricular hypertrophy. TOF occurs in 4.21 of every 10 000 births and is the most common type of CHD with cyanosis after 1 year of life.¹ TOF may occur as part of the DiGeorge syndrome . . . [Full text of this article]

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