Caspase-1 genetic variation is not associated with Alzheimer's disease risk
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AuthorVázquez Higuera, José Luis; Rodríguez Rodríguez, Eloy; Sánchez Juan, Pascual; Mateo Fernández, José Ignacio; Pozueta, Ana; Martínez García, Ana; Frank García, Ana; Valdivieso Amate, Fernando; Berciano Blanco, José Ángel; Bullido, María Jesús; Combarros Pascual, Onofre
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.
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.
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.
Our negative findings in the Spanish population argue against the hypothesis that CASP1 genetic variations are causally related to AD risk.
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