rs17571 is a SNP in the CTSD gene. It is associated with an increased risk of developing variant Creutzfeldt-Jakob disease (vCJD) [R].

Screening shows a significantly higher proportion of ''A'' allele carriers among male Alzheimer patients (28.5%) when compared with male controls (p = .039; OR= 2.48) [R].

Patients carrying the '''A'' allele had significantly decreased cerebrospinal fluid (CSF) levels of tau (p<0.001) [R].

The AA genotype was found to have a 9.75 fold increase in risk of Variant Creutzfeldt-Jakob disease (vCJD) compared to the GA genotype and a 10.92 fold increase compared to the GG genotype [R]. 

The ''A'' allele was associated with an increased risk of Alzheimer's disease (AD) (p-value 0.007) in the Rotterdam Study [R].




Parent Gene: CTSD

Importance: 2
Less common allele: A = 6%
More common allele: G = 94%
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