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Permanent URL to this publication: http://dx.doi.org/10.5167/uzh-26424

Ulrich, S; Szamalek-Hoegel, J; Hersberger, M; Fischler, M; Solera Garcia, J; Huber, L C; Grünig, E; Janssen, B; Speich, R (2010). Sequence variants in BMPR2 and genes involved in the serotonin and nitric oxide pathways in idiopathic pulmonary arterial hypertension and chronic thromboembolic pulmonary hypertension: relation to clinical parameters and comparison with left heart disease. Respiration, 79(4):279-287.

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Background: Idiopathic pulmonary arterial hypertension
(IPAH) and chronic thromboembolic pulmonary hypertension
(CTEPH) share important pathogenic and clinical features.
BMPR2 mutations are important in the pathogenesis
of IPAH, but little is known about the genetic background in
CTEPH. Objective: To search for mutations and polymorphisms
in genes involved in the BMPR2, serotonin and nitric
oxide pathways possibly associated with pulmonary and
cardiac disorders in IPAH and CTEPH. Methods: In a cohort
of Swiss patients with IPAH (n = 16) and CTEPH (n = 16), and
in 24 controls with left heart disease without PH, polymorphisms
in the BMPR2, 5-HHT, 5-HTR-2A and eNOS genes were
analyzed and correlated with various clinical, functional and hemodynamic parameters. Results: We found a BMPR2 missense
mutation in a patient with coronary artery disease
(CAD) without PH but no BMPR2 mutations in our collective
with late-onset sporadic PH. In patients with polymorphic
variants of the BMPR2 gene, the number of blood platelets
and oxygen saturation were increased. The c.600A ] C synonymous
variant was associated with worse exercise capacity
and decreased quality of life in PH. We found no significant
differences for any measured parameter according to
the eNOS, 5-HTR2A and the 5-HTT polymorphisms, although
there was a higher allelic frequency of the 5-HTT long variant
in IPAH than in CTEPH and controls. Conclusion: Our first report
of a BMPR2 mutation in a patient with CAD without PH
is interesting and warrants further investigation. Our study
may reflect the clinical status and genetic background in a
typical PH cohort as seen in a single tertiary care referral center.


7 citations in Web of Science®
7 citations in Scopus®
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Additional indexing

Item Type:Journal Article, refereed, original work
Communities & Collections:04 Faculty of Medicine > University Hospital Zurich > Clinic and Policlinic for Internal Medicine
04 Faculty of Medicine > University Children's Hospital Zurich > Medical Clinic
Dewey Decimal Classification:610 Medicine & health
Deposited On:06 Jan 2010 14:15
Last Modified:05 Apr 2016 13:41
Additional Information:© 2010 S. Karger AG
Publisher DOI:10.1159/000250322
PubMed ID:19844076

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