title: Caspase-1 genetic variation is not associated with Alzheimer's disease risk.
abstract: BACKGROUND
  Interleukin (IL)-1beta is a potent proinflammatory cytokine markedly overexpressed in the brains of patients with Alzheimer's disease (AD), and also involved in development of atherosclerosis and coronary artery disease. Caspase-1 (CASP1), formerly called IL-1beta converting enzyme (ICE), mediates the cleavage of the inactive precursor of IL-1beta into the biologically active form. CASP1 genetic variation (G+7/in6A, rs501192) has been associated with susceptibility to myocardial infarction and cardiovascular death risk. We examined the contribution of this gene to the susceptibility for AD.
  
  
  METHODS
  We examined genetic variations of CASP1 by genotyping haplotype tagging SNPs (htSNPs) (rs501192, rs556205 and rs530537) in a group of 628 Spanish AD cases and 722 controls.
  
  
  RESULTS
  There were no differences in the genotypic, allelic or haplotypic distributions between cases and controls in the overall analysis or after stratification by age, gender or APOE epsilon4 allele.
  
  
  CONCLUSIONS
  Our negative findings in the Spanish population argue against the hypothesis that CASP1 genetic variations are causally related to AD risk.
authors.affiliation: Neurology Service and CIBERNED, Marqués de Valdecilla University Hospital, Santander, Spain.
authors.forename: José Luis
authors.initials: JL
authors.lastname: Vázquez-Higuera
authors.forename: Eloy
authors.initials: E
authors.lastname: Rodríguez-Rodríguez
authors.forename: Pascual
authors.initials: P
authors.lastname: Sánchez-Juan
authors.forename: Ignacio
authors.initials: I
authors.lastname: Mateo
authors.forename: Ana
authors.initials: A
authors.lastname: Pozueta
authors.forename: Ana
authors.initials: A
authors.lastname: Martínez-García
authors.forename: Ana
authors.initials: A
authors.lastname: Frank
authors.forename: Fernando
authors.initials: F
authors.lastname: Valdivieso
authors.forename: José
authors.initials: J
authors.lastname: Berciano
authors.forename: María J
authors.initials: MJ
authors.lastname: Bullido
authors.forename: Onofre
authors.initials: O
authors.lastname: Combarros
mesh_terms: D000367:Age Factors; D000368:Aged; D000369:Aged, 80 and over; D000544:Alzheimer Disease / Q000235:genetics*; D053327:Apolipoprotein E4 / Q000235:genetics; D020170:Caspase 1 / Q000235:genetics*; D005260:Female; D014644:Genetic Variation; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D053583:Interleukin-1beta / Q000378:metabolism; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D012307:Risk Factors; D012737:Sex Factors
chemical_list: D053327:Apolipoprotein E4; D053583:Interleukin-1beta; D020170:Caspase 1