Research article

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

Jennifer A Johnson¹ , Cindy L Vnencak-Jones^2,3 , Joy D Cogan² , James E Loyd¹ and James West¹

¹  Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA

²  Department of Pediatrics, Vanderbilt University Medical Center, Nashville, TN, USA

³  Department of Pathology, Vanderbilt University Medical Center, Nashville, TN, USA

author email corresponding author email

BMC Medical Genetics 2009, 10:58doi:10.1186/1471-2350-10-58

Published:	16 June 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.