Publication: 5'UTR Repeat Polymorphisms of the BMPR2 gene in Children with Pulmonary Hypertension associated with Congenital Heart Disease
Issued Date
2013-03-01
Resource Type
ISSN
14442892
14439506
14439506
Other identifier(s)
2-s2.0-84875369894
Rights
Mahidol University
Rights Holder(s)
SCOPUS
Bibliographic Citation
Heart Lung and Circulation. Vol.22, No.3 (2013), 204-210
Suggested Citation
Alisa Limsuwan, Lulin Choubtum, Duangrurdee Wattanasirichaigoon 5'UTR Repeat Polymorphisms of the BMPR2 gene in Children with Pulmonary Hypertension associated with Congenital Heart Disease. Heart Lung and Circulation. Vol.22, No.3 (2013), 204-210. doi:10.1016/j.hlc.2012.09.004 Retrieved from: https://repository.li.mahidol.ac.th/handle/20.500.14594/32444
Research Projects
Organizational Units
Authors
Journal Issue
Thesis
Title
5'UTR Repeat Polymorphisms of the BMPR2 gene in Children with Pulmonary Hypertension associated with Congenital Heart Disease
Other Contributor(s)
Abstract
The mutations of bone morphogenetic protein receptor type 2 (BMPR2) in patients with idiopathic pulmonary hypertension has been well defined. We investigated the occurrence of BMPR2 mutation and genetic polymorphisms in children with pulmonary hypertension associated with congenital heart disease (aPH/CHD) and correlated with the pulmonary haemodynamic and vasoreactivity. Methods: BMPR2 mutation/polymorphisms were determined in 30 aPH/CHD children. All children underwent cardiac catheterisation to obtain baseline haemodynamic data. The 5'UTR containing promoter region and all the exons [1-13] of BMPR2 gene were genotyped for possible genetic variants that may be related to the aPH/CHD. Results: None of our 30 patients (median-age 90 months) with aPH/CHD (mean PAP 48±17mmHg, PVR 6.7±4.2WUm2) has had any BMPR2 mutation. Fifteen of them had single nucleotide polymorphism, rs1061157 and/or 5'UTR-polymorphism, specifically GGC repeat variant in seven patients; AGC repeat variant in one patient; and nine base pairs duplication (CTTCTTCGG) in one patient. The GGC repeat ≥13 was found in three out of six of children with aPH/CHD with normal PVR vs. two out of 24 children with aPH/CHD with high PVR. The odd ratio between these two subgroups of aPH/CHD is 0.09 (95% CI 0.02-0.34). Conclusions: In our cohort, there was no BMPR2 mutation in children with aPH/CHD while nine out of 30 of them have 5'UTR repeat polymorphisms. Our data suggests the occurrence of GGC repeat ≥13 at the 5'UTR region may have some protective effect towards pulmonary vasculopathy in children who have been exposed to high pulmonary blood flow due to CHD. © 2012 Australian and New Zealand Society of Cardiac and Thoracic Surgeons (ANZSCTS) and the Cardiac Society of Australia and New Zealand (CSANZ).