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Published ahead of print on January 6, 2006, doi:10.1164/rccm.200509-1365OC

Am. J. Respir. Crit. Care Med., Volume 173, Number 7, April 2006, 793-797

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Submitted on September 2, 2005
Accepted on January 6, 2006

Genetic Association of the Serotonin Transporter in Pulmonary Arterial Hypertension

Rajiv D Machado1, Rolf Koehler2, Eric Glissmeyer3, Colin Veal1, Jay Suntharalingam4, Miryoung Kim3, John Carlquist3, Margaret Town5, C. Gregory Elliott3, Marius Hoeper6, Anna Fijalkowska7, Marcin Kurzyna7, Jennifer R Thomson8, Simon R Gibbs5, Martin R Wilkins5, Werner Seeger9, J. Nicholas W Morrell10, Ekkehard Gruenig11, Richard C Trembath12*, and Bart R Janssen2

1 Departments of Genetics and Cardiovascular Sciences, Division of Medical Genetics, University of Leicester, Leicester, United Kingdom, 2 University of Heidelberg, Institute of Human Genetics, Heidelberg, Germany, 3 LDS Hospital and the University of Utah, Salt Lake, Utah, USA, 4 Pulmonary Vascular Diseases Unit, Papworth Hospital NHS Trust, Papworth Everard, United Kingdom, 5 National Heart and Lung Institute and Section on Clinical Pharmacology, Imperial College, London, United Kingdom, 6 Department of Pneumology, Medizinische Hochschule Hannover, Hannover, Germany, 7 Department of Chest Medicine, National Researche Institute of TB and Lung Diseases, Warsaw, Poland, 8 Department of Clinical Genetics, St. James's University Hospital, Leeds, United Kingdom, 9 Department of Internal Medicine, University Giessen Lung Center, Justus-Liebig University, Giessen, Germany, 10 Department of Medicine, Respiratory Medicine Unit, University of Cambridge, Addenbrookes Hospital, Cambridge, United Kingdom, 11 Department of Cardiology and Pneumology, University Hospital Heidelberg, Heidelberg, Germany, 12 Departments of Genetics and Cardiovascular Sciences, Division of Medical Genetics, University of Leicester, Leicester, United Kingdom; Departments of Genetics and Molecular Medicine (Guy's campus), Kings College, London, United Kingdom

* To whom correspondence should be addressed. E-mail: richard.trembath{at}genetics.kcl.ac.uk.

Rationale: The bone morphogenetic receptor type II gene is the major genetic determinant for the inherited form of pulmonary arterial hypertension. However, deleterious mutations of this gene are not observed in the majority of subjects who develop the condition spontaneously and familial disease displays age- and sex-dependent penetrance indicating the requirement for additional environmental and/or genetic modifiers for disease development. Methods: We investigated polymorphic variation of the serotonin transporter gene, a biological candidate for predisposition to this vascular disorder. Results: No significant evidence of association between alleles of the serotonin transporter gene and pulmonary hypertension was detected, nor did we observe a relationship with age of onset in familial and idiopathic disease. Conclusions: Variation of the serotonin transporter gene appears unlikely to confer significant susceptibility to pulmonary arterial hypertension. This study emphasises the need for adequately powered cohorts for association analyses in order to identify not only genetic determinants of disease susceptibility but also inherited modifiers for disease development.
Key words: BMPR2, penetrance, modifier, polymorphism




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