open access

Vol 76, No 5 (2018)
Original articles
Published online: 2018-01-19
Submitted: 2017-10-02
Accepted: 2018-01-18
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Genetic variants in a Polish population of patients with pulmonary arterial hypertension: sequencing of BMPR2, ALK1, and ENG genes

Barbara Uznańska-Loch, Kamil Wikło, Dominika Kulczycka-Wojdala, Bożena Szymańska, Łukasz Chrzanowski, Karina Wierzbowska-Drabik, Ewa Trzos, Jarosław D. Kasprzak, Małgorzata Kurpesa
DOI: 10.5603/KP.a2018.0034
·
Kardiol Pol 2018;76(5):852-859.

open access

Vol 76, No 5 (2018)
Original articles
Published online: 2018-01-19
Submitted: 2017-10-02
Accepted: 2018-01-18

Abstract

Background:

Pulmonary arterial hypertension (PAH) is a rare disease with a very serious prognosis. It seems that mutations in genes related to transforming growth factor-b signalling pathway are often related to the development of the disease. No study covers this problem in a Polish population.


Aim:

To screen for genetic mutations in a Polish cohort of patients with pulmonary hypertension, especially with idiopathic PAH, treated in a single hospital in Poland.


Methods:

DNA sequencing method was used. Samples from 50 patients with pulmonary hypertension were screened for mutations in type 2 bone morphogenetic protein receptor of the transforming growth factor-b superfamily gene (BMPR2). Samples from 20 patients with idiopathic PAH (11 men, mean age 55 years) were also screened for mutations in activin A receptor-like type 1 gene (ALK1) and endoglin gene (ENG).


Results:

No genetic variations were found for the BMPR2 gene. In all 20 samples from idiopathic pulmonary hypertension patients we found heterozygosity of single nucleotide polymorphism (SNP) rs 372023206 in ALK1 gene. Three samples from these patients showed variations of ENG gene: we found one sample with heterozygosity of SNP rs 200525684, one with heterozygosity of SNP rs 3739817, and one with both.


Conclusions:

We detected benign polymorphisms or genetic variants of unknown importance. It is possible that the Polish population of PAH patients differs from the previously described populations of other countries in terms of the frequency and importance of mutations in BMPR2, ALK1 and ENG genes.

Abstract

Background:

Pulmonary arterial hypertension (PAH) is a rare disease with a very serious prognosis. It seems that mutations in genes related to transforming growth factor-b signalling pathway are often related to the development of the disease. No study covers this problem in a Polish population.


Aim:

To screen for genetic mutations in a Polish cohort of patients with pulmonary hypertension, especially with idiopathic PAH, treated in a single hospital in Poland.


Methods:

DNA sequencing method was used. Samples from 50 patients with pulmonary hypertension were screened for mutations in type 2 bone morphogenetic protein receptor of the transforming growth factor-b superfamily gene (BMPR2). Samples from 20 patients with idiopathic PAH (11 men, mean age 55 years) were also screened for mutations in activin A receptor-like type 1 gene (ALK1) and endoglin gene (ENG).


Results:

No genetic variations were found for the BMPR2 gene. In all 20 samples from idiopathic pulmonary hypertension patients we found heterozygosity of single nucleotide polymorphism (SNP) rs 372023206 in ALK1 gene. Three samples from these patients showed variations of ENG gene: we found one sample with heterozygosity of SNP rs 200525684, one with heterozygosity of SNP rs 3739817, and one with both.


Conclusions:

We detected benign polymorphisms or genetic variants of unknown importance. It is possible that the Polish population of PAH patients differs from the previously described populations of other countries in terms of the frequency and importance of mutations in BMPR2, ALK1 and ENG genes.

Get Citation

Keywords

genetic mutations, pulmonary arterial hypertension, BMPR2 gene, ALK1 gene, ENG gene

About this article
Title

Genetic variants in a Polish population of patients with pulmonary arterial hypertension: sequencing of BMPR2, ALK1, and ENG genes

Journal

Kardiologia Polska (Polish Heart Journal)

Issue

Vol 76, No 5 (2018)

Pages

852-859

Published online

2018-01-19

DOI

10.5603/KP.a2018.0034

Bibliographic record

Kardiol Pol 2018;76(5):852-859.

Keywords

genetic mutations
pulmonary arterial hypertension
BMPR2 gene
ALK1 gene
ENG gene

Authors

Barbara Uznańska-Loch
Kamil Wikło
Dominika Kulczycka-Wojdala
Bożena Szymańska
Łukasz Chrzanowski
Karina Wierzbowska-Drabik
Ewa Trzos
Jarosław D. Kasprzak
Małgorzata Kurpesa

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