title: Association of a single nucleotide polymorphism of the NPR3 gene promoter with early onset ischemic stroke in an Italian cohort.
abstract: BACKGROUND
  NPR3, located on human chromosome 5 (5p14-p13), encodes the natriuretic peptide receptor type C (NPR-C) that is mainly known as the natriuretic peptide clearance receptor. Involvement of NPR3 in susceptibility to cardiovascular diseases, i.e. hypertension, has been previously shown. With regard to stroke predisposition, evidence for a potential role of genetic variation within or nearby NPR3 has been suggested by a previous genome wide association study.
  
  
  METHODS
  We investigated the contribution to early-onset ischemic stroke susceptibility of the NPR3 -55 C>A transition by genotyping this variant in an Italian cohort of 368 cases and 335 controls.
  
  
  RESULTS
  In a multivariable logistic regression analysis adjusting for age, gender, hypertension, hypercholesterolemia, smoking habit and diabetes, a significant association of the -55 AA genotype with stroke was observed (OR=3.2, 95% CI 1.2-8.3, p=0.016). Remarkably, the polymorphism remained associated with stroke after adjusting for hypertensive status.
  
  
  CONCLUSIONS
  Our observation obtained in an Italian cohort of early onset ischemic strokes suggests that a NPR3 promoter gene variant could have a role on cerebrovascular disease susceptibility.
authors.affiliation: Department of Cardiology, School of Medicine and Psychology, Sapienza University, S. Andrea Hospital, Rome, Italy. rubattu.speranza@neuromed.it
authors.forename: Speranza
authors.initials: S
authors.lastname: Rubattu
authors.forename: Betti
authors.initials: B
authors.lastname: Giusti
authors.forename: Luca Andrea
authors.initials: LA
authors.lastname: Lotta
authors.forename: Flora
authors.initials: F
authors.lastname: Peyvandi
authors.forename: Maria
authors.initials: M
authors.lastname: Cotugno
authors.forename: Rosita
authors.initials: R
authors.lastname: Stanzione
authors.forename: Simona
authors.initials: S
authors.lastname: Marchitti
authors.forename: Anna Maria
authors.initials: AM
authors.lastname: Palombella
authors.forename: Sara
authors.initials: S
authors.lastname: Di Castro
authors.forename: Maurizia
authors.initials: M
authors.lastname: Rasura
authors.forename: Pier Mannuccio
authors.initials: PM
authors.lastname: Mannucci
authors.forename: Massimo
authors.initials: M
authors.lastname: Volpe
mesh_terms: D000328:Adult; D017668:Age of Onset; D002545:Brain Ischemia / Q000150:complications / Q000235:genetics*; D005260:Female; D006801:Humans; D007558:Italy; D008297:Male; D020641:Polymorphism, Single Nucleotide; D011401:Promoter Regions, Genetic / Q000235:genetics*; D017461:Receptors, Atrial Natriuretic Factor / Q000235:genetics*; D020521:Stroke / Q000209:etiology / Q000235:genetics*
chemical_list: D017461:Receptors, Atrial Natriuretic Factor; C073616:atrial natriuretic factor receptor C