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

• Main Authors: Berciano José (Author), Valdivieso Fernando (Author), Frank Ana (Author), Martínez-García Ana (Author), Pozueta Ana (Author), Mateo Ignacio (Author), Sánchez-Juan Pascual (Author), Rodríguez-Rodríguez Eloy (Author), Vázquez-Higuera José (Author), Bullido María J (Author), Combarros Onofre (Author)
• Format: Book
• Published: BMC, 2010-02-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.
• Notes: 10.1186/1471-2350-11-32; 1471-2350
• Keywords: Internal medicine; RC31-1245; Genetics; QH426-470
• Source: BMC Medical Genetics, Vol 11, Iss 1, p 32 (2010)

<p>Abstract</p> <p>Background</p> <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.</p> <p>Methods</p> <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.</p> <p>Results</p> <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.</p> <p>Conclusion</p> <p>Our negative findings in the Spanish population argue against the hypothesis that CASP1 genetic variations are causally related to AD risk.</p>