Allelic variation in the serotonin transporter (5HTT) gene contributes to idiopathic pulmonary hypertension in children

Akshaya Vachharajani, Scott Saunders

Research output: Contribution to journalArticlepeer-review

13 Scopus citations

Abstract

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.

Original languageEnglish
Pages (from-to)376-379
Number of pages4
JournalBiochemical and Biophysical Research Communications
Volume334
Issue number2
DOIs
StatePublished - Aug 26 2005

Keywords

  • 5HTT
  • BMP
  • Lung
  • Pulmonary arteries
  • Pulmonary hypertension
  • Serotonin transporter
  • Smooth muscle

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