Caspase-1 genetic variation is not associated with Alzheimer's disease risk
José Luis Vázquez-Higuera1, Eloy Rodríguez-Rodríguez, Pascual Sánchez-Juan
1Neurology Service and CIBERNED, Marqués de Valdecilla University Hospital, Santander, Spain.
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.
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