Genetics and Genomics of Pulmonary Arterial Hypertension
Key result
BMPR2 and ACVRL1 mutations account for ~75% of familial pulmonary arterial hypertension cases.
Why the study?
Major discoveries in hereditary predisposition to pulmonary arterial hypertension have been made, but mutation shortfall remains unexplained despite known genes.
Population
Patients with pulmonary arterial hypertension and hereditary predisposition
Design
Review
Authors
Discussion
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Implication
This review highlights major genetic discoveries in pulmonary arterial hypertension, including BMPR2 mutations, and the role of next-generation sequencing in advancing diagnosis and understanding disease mechanisms.
Key Points
- Review the established and emerging genetic causes, genomic technologies, and epigenetic mechanisms underlying pulmonary arterial hypertension.
- Synthesized findings from gene discovery efforts, including linkage analysis, genome-wide association studies (GWAS), and next-generation sequencing (NGS).
- Assessed registry-based clinical characterizations, genetic screening data, and tissue-level transcriptomic and epigenetic profiling of pulmonary vascular cells.
- BMPR2 mutations account for approximately 75% of familial pulmonary arterial hypertension cases, with ACVRL1 as the primary driver when presenting with hereditary hemorrhagic telangiectasia.
- Next-generation sequencing and GWAS identify additional rare and common genetic variants, helping resolve the remaining unexplained familial cases.
- High-throughput molecular analyses reveal extensive epigenetic regulation in affected pulmonary tissue, including altered DNA methylation, histone modifications, and microRNA expression.
Structured PICO
P
Population
Patients with pulmonary arterial hypertension (PAH) and hereditary predisposition
This review highlights major genetic discoveries in pulmonary arterial hypertension, including BMPR2 mutations, and the role of next-generation sequencing in advancing diagnosis and understanding disease mechanisms.
Cite This Study
Soubrier et al. (2013) conducted a review in Pulmonary Arterial Hypertension. Genetic and genomic studies have identified BMPR2 and ACVRL1 as major predisposing genes for pulmonary arterial hypertension, accounting for approximately 75% of mutations in familial cases.