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Caspase-1 genetic variation is not associated with Alzheimer's disease risk

AuthorsVázquez-Higuera, José Luis; Rodríguez-Rodríguez, Eloy; Sánchez-Juan, Pascual; Mateo, Ignacio; Pozueta, Ana; Martínez-García, Ana ; Frank, Ana; Valdivieso Amate, Fernando; Berciano, José; Bullido, María Jesús ; Bullido, María Jesús ; Combarros, Onofre
Issue Date25-Feb-2010
PublisherBioMed Central
CitationBMC Medical Genetics 11(32): (2010)
Abstract[Background] Interleukin (IL)-1β 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-1β converting enzyme (ICE), mediates the cleavage of the inactive precursor of IL-1β 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 ε4 allele.
[Conclusion] Our negative findings in the Spanish population argue against the hypothesis that CASP1 genetic variations are causally related to AD risk.
Description4 pages, 2 tables.
Publisher version (URL)http://dx.doi.org/10.1186/1471-2350-11-32
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