Transcription profiling by array of human BMPR2 mutation carriers with and without evidence of pulmonary arterial hypertension

ABSTRACT: Background: While BMPR2 mutation strongly predisposes to pulmonary arterial hypertension (PAH), only 20% of mutation carriers develop clinical disease. This finding suggests that modifier genes contribute to FPAH clinical expression. Since modifiers are likely to be common alleles, this problem is not tractable by traditional genetic approaches. Further, examination of gene expression is complicated by confounding effects attributable to drugs and the disease process itself. Methods: To resolve these problems, B-cells were isolated, EBV-immortalized, and cultured from familial PAH patients with BMPR2 mutations, mutation positive but disease-free family members, and family members without mutation. This allows examination of differences in gene expression without drug or disease-related eff

ORGANISM(S): Homo sapiens

SUBMITTER: James West 

PROVIDER: E-GEOD-10767 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress