TY - JOUR
T1 - Allelic variation in the serotonin transporter (5HTT) gene contributes to idiopathic pulmonary hypertension in children
AU - Vachharajani, Akshaya
AU - Saunders, Scott
PY - 2005/8/26
Y1 - 2005/8/26
N2 - Pulmonary hypertension is a potentially lethal condition, which affects adults and children alike. Genetic factors are implicated in the causation of primary pulmonary hypertension. We investigate the role of polymorphism in the 5HTT gene in the etiology of pulmonary hypertension in children aged 1-18.8 years. We have tested the hypothesis that the 5HTT gene does contribute to the pathogenesis of this disease in children by comparing the allelic frequencies of both the long and short variants between children with idiopathic pulmonary hypertension and pulmonary hypertension secondary to underlying pulmonary disease. We found that homozygosity for the long variant of 5HTT was highly associated with idiopathic pulmonary hypertension in children, suggesting perhaps a more important role for 5HTT gene function in the pathogenesis of early onset disease.
AB - Pulmonary hypertension is a potentially lethal condition, which affects adults and children alike. Genetic factors are implicated in the causation of primary pulmonary hypertension. We investigate the role of polymorphism in the 5HTT gene in the etiology of pulmonary hypertension in children aged 1-18.8 years. We have tested the hypothesis that the 5HTT gene does contribute to the pathogenesis of this disease in children by comparing the allelic frequencies of both the long and short variants between children with idiopathic pulmonary hypertension and pulmonary hypertension secondary to underlying pulmonary disease. We found that homozygosity for the long variant of 5HTT was highly associated with idiopathic pulmonary hypertension in children, suggesting perhaps a more important role for 5HTT gene function in the pathogenesis of early onset disease.
KW - 5HTT
KW - BMP
KW - Lung
KW - Pulmonary arteries
KW - Pulmonary hypertension
KW - Serotonin transporter
KW - Smooth muscle
UR - http://www.scopus.com/inward/record.url?scp=22144474040&partnerID=8YFLogxK
U2 - 10.1016/j.bbrc.2005.06.107
DO - 10.1016/j.bbrc.2005.06.107
M3 - Article
C2 - 16009349
AN - SCOPUS:22144474040
VL - 334
SP - 376
EP - 379
JO - Biochemical and Biophysical Research Communications
JF - Biochemical and Biophysical Research Communications
SN - 0006-291X
IS - 2
ER -