Ontology highlight
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.Conclusion
Our negative findings in the Spanish population argue against the hypothesis that CASP1 genetic variations are causally related to AD risk.
SUBMITTER: Vazquez-Higuera JL
PROVIDER: S-EPMC2837022 | biostudies-literature | 2010 Feb
REPOSITORIES: biostudies-literature

Vázquez-Higuera José Luis JL Rodríguez-Rodríguez Eloy E Sánchez-Juan Pascual P Mateo Ignacio I Pozueta Ana A Martínez-García Ana A Frank Ana A Valdivieso Fernando F Berciano José J Bullido María J MJ Combarros Onofre O
BMC medical genetics 20100225
<h4>Background</h4>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 myocardi ...[more]