• Medientyp: E-Artikel
  • Titel: Caspase-1 genetic variation is not associated with Alzheimer's disease risk
  • Beteiligte: Vázquez-Higuera, José Luis; Rodríguez-Rodríguez, Eloy; Sánchez-Juan, Pascual; Mateo, Ignacio; Pozueta, Ana; Martínez-García, Ana; Frank, Ana; Valdivieso, Fernando; Berciano, José; Bullido, María J; Combarros, Onofre
  • Erschienen: Springer Science and Business Media LLC, 2010
  • Erschienen in: BMC Medical Genetics, 11 (2010) 1
  • Sprache: Englisch
  • DOI: 10.1186/1471-2350-11-32
  • ISSN: 1471-2350
  • Schlagwörter: Genetics (clinical) ; Genetics
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  • Beschreibung: <jats:title>Abstract</jats:title> <jats:sec> <jats:title>Background</jats:title> <jats:p>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.</jats:p> </jats:sec> <jats:sec> <jats:title>Methods</jats:title> <jats:p>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.</jats:p> </jats:sec> <jats:sec> <jats:title>Results</jats:title> <jats:p>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.</jats:p> </jats:sec> <jats:sec> <jats:title>Conclusion</jats:title> <jats:p>Our negative findings in the Spanish population argue against the hypothesis that CASP1 genetic variations are causally related to AD risk.</jats:p> </jats:sec>
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