Association of a single nucleotide polymorphism of the NPR3 gene promoter with early onset ischemic stroke in an Italian cohort

Speranza Rubattu, Betti Giusti, Luca Andrea Lotta, Flora Peyvandi, Maria Cotugno, Rosita Stanzione, Simona Marchitti, Anna Maria Palombella, Sara Di Castro, Maurizia Rasura, Pier Mannuccio Mannucci, Massimo Volpe

Research output: Contribution to journalArticle

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. Conclusion: 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.

Original languageEnglish
Pages (from-to)80-82
Number of pages3
JournalEuropean Journal of Internal Medicine
Volume24
Issue number1
DOIs
Publication statusPublished - Jan 2013

Keywords

  • Genetics
  • Juvenile ischemic stroke
  • Natriuretic peptides
  • NPR3

ASJC Scopus subject areas

  • Internal Medicine

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