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


CONCLUSIONS
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.


BACKGROUND
NIH NCT00091546.
Johnson
Jennifer A
JA
Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA. jennifer.johnson.2@vanderbilt.edu
Vnencak-Jones
Cindy L
CL
Cogan
Joy D
JD
Loyd
James E
JE
West
James
J
D052006:Bone Morphogenetic Protein Receptors, Type II / Q000235:genetics*; D017931:DNA Primers; D018628:Gene Dosage / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation; D015894:Genome, Human; D055106:Genome-Wide Association Study; D006801:Humans; D006976:Hypertension, Pulmonary / Q000235:genetics*; D007438:Introns; D010641:Phenotype; D011651:Pulmonary Artery
D017931:DNA Primers; D052006:Bone Morphogenetic Protein Receptors, Type II