||Normal risk of vCJD
||Increase in risk of vCJD. But rare.
 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.
[PMID 20083556] The Cathepsin D (224C/T) Polymorphism Confers an Increased Risk to Develop Alzheimer's Disease in Men
[PMID 16652347] The cathepsin D rs17571 polymorphism: effects on CSF tau concentrations in Alzheimer disease.
[PMID 17601350] A genetic association analysis of cognitive ability and cognitive ageing using 325 markers for 109 genes associated with oxidative stress or cognition.
[PMID 18248894] Short arm of chromosome 11 and sporadic Alzheimer's disease: catalase and cathepsin D gene polymorphisms.
[PMID 18426579] Cathepsin D SNP associated with increased risk of variant Creutzfeldt-Jakob disease.
[PMID 18830724] Assessment of Alzheimer's disease case-control associations using family-based methods.
[PMID 19926167] Cathepsin D gene and the risk of Alzheimer's disease: a population-based study and meta-analysis.
[PMID 23415546] Cerebellar dysfunction in a family harboring the PSEN1 mutation co-segregating with a Cathepsin D variant p.A58V