Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs17571
rs17571
0.080 GeneticVariation BEFREE The exon variant Aal58Val (rs17571) in CTSD was recently associated with AD, leading us to examine whether it also affects risk of ALS and PD. 28917980

2018

dbSNP: rs17571
rs17571
0.080 GeneticVariation BEFREE Additional search for potentially modifying variants revealed in all affected individuals of the third generation a paternally inherited variant p.A58V (rs17571) of Cathepsin D which is considered an independent risk factor for Alzheimer's disease. 23415546

2013

dbSNP: rs17571
rs17571
0.080 GeneticVariation BEFREE A meta-analysis of previously published data showed a significantly increased risk of AD in carriers of the T-allele of rs17571 (OR 1.22, 95% CI 1.03-1.44), irrespective of APOE ε4 carrier status. 19926167

2011

dbSNP: rs17571
rs17571
0.080 GeneticVariation BEFREE Thus, our results support the idea that rs17571 confers an increased risk for AD in</span> men but not in women. 20083556

2010

dbSNP: rs17571
rs17571
0.080 GeneticVariation BEFREE Furthermore, we did not find any statistically significant differences in rates between CAT rs1001179 and CTSD rs17571 genotypes and AD controlling for APOE e4 allele status. 18248894

2008

dbSNP: rs17571
rs17571
0.080 GeneticVariation BEFREE This study looked at a polymorphism in the cathepsin D gene (refSNP ID: rs17571) previously examined in Alzheimer's disease (AD). 18426579

2008

dbSNP: rs17571
rs17571
0.080 GeneticVariation BEFREE The cathepsin D rs17571 polymorphism: effects on CSF tau concentrations in Alzheimer disease. 16652347

2006

dbSNP: rs17571
rs17571
0.080 GeneticVariation BEFREE A C224T (A38V) polymorphism in exon 2 of the CTSD gene is reported to be associated with an increased risk for AD. 12811635

2003

dbSNP: rs1366541089
rs1366541089
0.040 GeneticVariation BEFREE Variations in CTSD and MnSOD showed no association with the development of AD, whereas the presence of the Ala224Val polymorphism in CTSD had a positive association with the development of AD. 26351775

2015

dbSNP: rs1366541089
rs1366541089
0.040 GeneticVariation BEFREE It has been suggested that the C-->T (224Ala-->Val) transition within exon 2 of the cathepsin D gene (CTSD) might represent a risk factor for late onset AD. 16543533

2006

dbSNP: rs1366541089
rs1366541089
0.040 GeneticVariation BEFREE Meta-analysis of the association of the cathepsin D Ala224Val gene polymorphism with the risk of Alzheimer's disease: a HuGE gene-disease association review. 15003956

2004

dbSNP: rs1366541089
rs1366541089
0.040 GeneticVariation BEFREE A functional polymorphism in exon 2 of the cathepsin D gene (C-->T, Ala224Val) has recently been reported to increase the risk for AD in some of the Caucasian populations, with a significant overrepresentation of the T allele, but these reports have not been universally duplicated. 15211064

2004

dbSNP: rs1369330655
rs1369330655
0.010 GeneticVariation BEFREE A C224T (A38V) polymorphism in exon 2 of the CTSD gene is reported to be associated with an increased risk for AD. 12811635

2003