title: Genetic association of the serotonin transporter in pulmonary arterial hypertension.
abstract: BACKGROUND
  The bone morphogenetic receptor type II gene is the major genetic determinant for the inherited form of pulmonary arterial hypertension. However, deleterious mutations of this gene are not observed in the majority of subjects who develop the condition spontaneously and familial disease displays age- and sex-dependent penetrance, indicating the requirement for additional environmental and/or genetic modifiers for disease development.
  
  
  METHODS
  We investigated polymorphic variation of the serotonin transporter gene, a biological candidate for predisposition to this vascular disorder.
  
  
  RESULTS
  No significant evidence of association between alleles of the serotonin transporter gene and pulmonary hypertension was detected, nor did we observe a relationship with age of onset in familial and idiopathic disease.
  
  
  CONCLUSIONS
  Variation of the serotonin transporter gene appears unlikely to confer significant susceptibility to pulmonary arterial hypertension. This study emphasizes the need for adequately powered cohorts for association analyses to identify not only genetic determinants of disease susceptibility but also inherited modifiers for disease development.
authors.affiliation: Division of Medical Genetics, Department of Genetics, University of Leicester, Leicester, UK.
authors.forename: Rajiv D
authors.initials: RD
authors.lastname: Machado
authors.forename: Rolf
authors.initials: R
authors.lastname: Koehler
authors.forename: Eric
authors.initials: E
authors.lastname: Glissmeyer
authors.forename: Colin
authors.initials: C
authors.lastname: Veal
authors.forename: Jay
authors.initials: J
authors.lastname: Suntharalingam
authors.forename: Miryoung
authors.initials: M
authors.lastname: Kim
authors.forename: John
authors.initials: J
authors.lastname: Carlquist
authors.forename: Margaret
authors.initials: M
authors.lastname: Town
authors.forename: C Gregory
authors.initials: CG
authors.lastname: Elliott
authors.forename: Marius
authors.initials: M
authors.lastname: Hoeper
authors.forename: Anna
authors.initials: A
authors.lastname: Fijalkowska
authors.forename: Marcin
authors.initials: M
authors.lastname: Kurzyna
authors.forename: Jennifer R
authors.initials: JR
authors.lastname: Thomson
authors.forename: Simon R
authors.initials: SR
authors.lastname: Gibbs
authors.forename: Martin R
authors.initials: MR
authors.lastname: Wilkins
authors.forename: Werner
authors.initials: W
authors.lastname: Seeger
authors.forename: Nicholas W
authors.initials: NW
authors.lastname: Morrell
authors.forename: Ekkehard
authors.initials: E
authors.lastname: Gruenig
authors.forename: Richard C
authors.initials: RC
authors.lastname: Trembath
authors.forename: Bart
authors.initials: B
authors.lastname: Janssen
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D002675:Child, Preschool; D004247:DNA / Q000235:genetics*; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D006976:Hypertension, Pulmonary / Q000235:genetics* / Q000378:metabolism; D007223:Infant; D008875:Middle Aged; D009154:Mutation; D011110:Polymorphism, Genetic; D050486:Serotonin Plasma Membrane Transport Proteins / Q000235:genetics*
chemical_list: C493230:SLC6A4 protein, human; D050486:Serotonin Plasma Membrane Transport Proteins; D004247:DNA