title: A protective role of a cholesteryl ester transfer protein gene variant towards ischaemic stroke in Sardinians.
abstract: OBJECTIVE
  Cholesteryl ester transfer protein (CETP) plays a key role in the metabolism of high-density lipoprotein (HDL), a strong, inverse, independent risk factor for cardiovascular disease. We sought to investigate the relationship between a common variant of CETP gene, the Taq1 B polymorphism, that has been previously associated with CETP blood concentrations, and the risk of ischaemic stroke in a genetically homogenous population from the Sardinia island, Italy. This population has been previously shown to be a highly conservative sample.
  
  
  METHODS
  A total of 215 cases of ischaemic stroke and 236 controls were selected and characterized for the CETP Taq1 B polymorphism. Allele and genotype frequencies were compared amongst cases and controls.
  
  
  RESULTS
  Age, hypertension and hypercholesterolaemia were independent risk factors for stroke in this cohort. We found that presence of the CETP Taq1 B2 allele was associated with a significantly decreased risk of ischaemic stroke when assuming a recessive mode of inheritance (OR 0.55, 95% CI = 0.34-0.90, P = 0.017). This result was confirmed by multivariate analysis, after adjustment for age, presence of hypertension and hypercholesterolaemia (OR 0.53, 95% CI = 0.32-0.88, P = 0.014). By performing separate analysis for gender we found that the effect was present in females but not in males, with a significant sex-CETP gene variant interaction for both recessive (P = 0.005) and additive (P = 0.029) modes of inheritance.
  
  
  CONCLUSIONS
  Our data suggest that the Taq1 B2 allelic variant of the CETP gene may be associated, as a protective factor, with occurrence of ischaemic stroke. Further studies are needed to further elucidate the clinical implications of our finding.
authors.affiliation: Department of Cardiology, IInd School of Medicine, University La Sapienza, Ospedale Sant'Andrea, Rome, Italy.
authors.forename: G
authors.initials: G
authors.lastname: Quarta
authors.forename: R
authors.initials: R
authors.lastname: Stanzione
authors.forename: A
authors.initials: A
authors.lastname: Evangelista
authors.forename: B
authors.initials: B
authors.lastname: Zanda
authors.forename: S
authors.initials: S
authors.lastname: Sciarretta
authors.forename: E
authors.initials: E
authors.lastname: Di Angelantonio
authors.forename: S
authors.initials: S
authors.lastname: Marchitti
authors.forename: D
authors.initials: D
authors.lastname: Di Murro
authors.forename: M
authors.initials: M
authors.lastname: Volpe
authors.forename: S
authors.initials: S
authors.lastname: Rubattu
mesh_terms: D017677:Age Distribution; D000368:Aged; D000369:Aged, 80 and over; D002545:Brain Ischemia / Q000453:epidemiology / Q000235:genetics; D016022:Case-Control Studies; D053480:Cholesterol Ester Transfer Proteins / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease / Q000453:epidemiology / Q000235:genetics; D005838:Genotype; D006801:Humans; D007558:Italy / Q000453:epidemiology; D008297:Male; D008875:Middle Aged; D010641:Phenotype; D011110:Polymorphism, Genetic / Q000235:genetics*; D012307:Risk Factors; D017678:Sex Distribution; D020521:Stroke / Q000453:epidemiology / Q000235:genetics*
chemical_list: C506642:CETP protein, human; D053480:Cholesterol Ester Transfer Proteins