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BMC Medical Genetics

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Open Access 01-12-2009 | Research article

Copy-number variation in BMPR2 is not associated with the pathogenesis of pulmonary arterial hypertension

Authors: Jennifer A Johnson, Cindy L Vnencak-Jones, Joy D Cogan, James E Loyd, James West

Published in: BMC Medical Genetics | Issue 1/2009

Abstract

Background

Copy-number variations (CNVs) are structural variations in the genome involving 1 kb to 3 mb of DNA. CNV has been reported within intron 1 of the BMPR2 gene. We propose that CNV could affect phenotype in familial and/or sporadic pulmonary arterial hypertension (PAH) by altering gene expression.

Methods

97 human DNA samples were obtained which included 24 patients with familial PAH, 18 obligate carriers (BMPR2 mutation positive), 20 sporadic PAH patients, and 35 controls. Two sets of primers were designed within the CNV, and two sets of control primers were designed outside the CNV. Quantitative PCR was performed to quantify genomic copies of CNV and control sequences.

Results

A CNV in BMPR2 was present in one African American negative control subject.

Conclusion

We conclude that the CNV in intron 1 in BMPR2 is unlikely to play a role in the pathogenesis of either familial or sporadic PAH.

Trial Registration

NIH NCT00091546.

Available only for authorised users

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The pre-publication history for this paper can be accessed here:http://www.biomedcentral.com/1471-2350/10/58/prepub

Title: Copy-number variation in BMPR2 is not associated with the pathogenesis of pulmonary arterial hypertension
Authors: Jennifer A Johnson
Cindy L Vnencak-Jones
Joy D Cogan
James E Loyd
James West
Publication date: 01-12-2009
Publisher: BioMed Central
Published in: BMC Medical Genetics / Issue 1/2009
Electronic ISSN: 1471-2350
DOI: https://doi.org/10.1186/1471-2350-10-58

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Springer Medicine

Copy-number variation in BMPR2 is not associated with the pathogenesis of pulmonary arterial hypertension

Abstract

Background

Methods

Results

Conclusion

Trial Registration

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Background

Methods

Results

Conclusion

Trial Registration

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