Phosphodiesterase 4D and 5-lipoxygenase activating protein genes and risk of ischemic stroke in Sardinians

Eur J Hum Genet. 2009 Nov;17(11):1448-53. doi: 10.1038/ejhg.2009.71. Epub 2009 May 6.

Abstract

Genetic factors contribute to the risk of ischemic stroke (IS). The phosphodiesterase-4D (PDE4D) and the 5-lipoxygenase activating protein (ALOX5AP) genes were identified as contributors to stroke in an Icelandic population. In an attempt to better define the contributory role of PDE4D and ALOX5AP genes to the risk of IS in humans, we carried out the present association study in a well-characterized, earlier published, genetically homogenous population from the island of Sardinia, Italy. In this cohort, including 294 cases and 235 controls, age, hypertension, hypercholesterolemia, and atrial fibrillation represent risk factors for IS. The PDE4D gene was evaluated by four single nucleotide polymorphisms (SNP32, SNP45, SNP83, SNP87) and by the microsatellite AC008818-1; the ALOX5AP gene was characterized by three SNPs (SG13S32, SG13S89, ALO2A). The results of our study provide no evidence of association between any single PDE4D and ALOX5AP gene variant with the risk of IS in the Sardinian cohort. Haplotype analysis, including that constructed with allele 0 of microsatellite AC008818-1 and SNP45 of the PDE4D gene, was also negative. In conclusion, we found no evidence of association between PDE4D and ALOX5AP genes and the risk of IS in a genetically homogenous population from Sardinia.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • 5-Lipoxygenase-Activating Proteins
  • Aged
  • Brain Ischemia / genetics*
  • Carrier Proteins / genetics*
  • Case-Control Studies
  • Cyclic Nucleotide Phosphodiesterases, Type 4 / genetics*
  • Female
  • Genetic Association Studies
  • Genetic Predisposition to Disease
  • Humans
  • Italy
  • Linkage Disequilibrium
  • Male
  • Membrane Proteins / genetics*
  • Microsatellite Repeats
  • Middle Aged
  • Polymorphism, Single Nucleotide
  • Risk Factors
  • Stroke / genetics*

Substances

  • 5-Lipoxygenase-Activating Proteins
  • ALOX5AP protein, human
  • Carrier Proteins
  • Membrane Proteins
  • Cyclic Nucleotide Phosphodiesterases, Type 4