Kardiologia polska 2018 01 19() doi 10.5603/KP.a2018.0034
Pulmonary arterial hypertension (PAH) is a rare disease with a very serious prognosis. It seems that mutations in genes related to the transforming growth factor-beta signaling pathway are often related to the development of the disease. There was no study in Polish population that would cover this problem.
To screen for genetic mutations in Polish cohort of patients with pulmonary hypertension, especially with idiopathic PAH, treated in a single hospital in Poland.
DNA sequencing method was used. Samples from fifty patients with pulmonary hypertension were screened for mutations in type 2 bone morphogenetic protein receptor of the transforming growth factor-beta superfamily gene (BMPR2). Samples from 20 patients with idiopathic PAH (11 males, mean age 55 years) were also screened for mutations in activin A receptor like type 1 gene (ALK1) and endoglin gene (ENG).
No genetic variations were found for the BMPR2 gene. In idiopathic PAH, in ALK1 gene we found heterozygosity of Single Nucleotide Polymorphism SNP rs 372023206 in all 20 samples. Three samples from idiopathic PAH patients showed variations of ENG gene: we found one sample with heterozygosity of SNP rs 200525684, one with heterozygosity of SNP rs 3739817, one with both.
We detected benign polymorphisms or genetic variants of unknown importance. Perhaps in the Polish population of PAH patients the frequency and importance of mutations of BMPR2, ALK1 and ENG genes is different from those described previously in the populations of other countries.