Rs17571

110 Variant Creutzfeldt-Jakob disease (vCJD) patients were tested for the C-T base change. significant excess of the cathepsin D polymorphism TT genotype in the vCJD cohort compared to controls. The TT genotype was found to have a 9.75 fold increase in risk of vCJD compared to the CT genotype and a 10.92 fold increase compared to the CC genotype. The disease was known as "mad cow" when an outbreak occurred in Britain in the 1990s.

The cathepsin D rs17571 polymorphism: effects on CSF tau concentrations in Alzheimer disease.

A genetic association analysis of cognitive ability and cognitive ageing using 325 markers for 109 genes associated with oxidative stress or cognition.

Short arm of chromosome 11 and sporadic Alzheimer's disease: catalase and cathepsin D gene polymorphisms.

Cathepsin D SNP associated with increased risk of variant Creutzfeldt-Jakob disease.

Assessment of Alzheimer's disease case-control associations using family-based methods.

Cathepsin D gene and the risk of Alzheimer's disease: a population-based study and meta-analysis.