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Ubiquilin 1 (UBQLN1) is involved in the ubiquitination machinery, which has been implicated in Alzheimer's disease (AD) as well as Parkinson's disease (PD). A polymorphism in the gene encoding for UBQLN1 has been previously associated with a higher risk of AD. We studied the role of the SNP rs12344615 on the UBQLN 1 gene in AD, PD and cognitive function in a population-based study, the Rotterdam Study, and a family-based study embedded in the genetic research in isolated population (GRIP) program. The Rotterdam Study includes 549 patients with AD and 157 patients with PD. The GRIP program includes a series of 123 patients with AD and a study of 1049 persons who are characterized for cognitive function. Data were analysed using logistic and multiple regression analysis. We found no significant difference in risk of AD or PD by the UBQLN1 SNP rs12344615 in our overall and stratified analyses in the Rotterdam Study. In our family-based study, we did not find evidence for linkage of AD to the region including the UBQLN1 gene. In the family-based study we also failed to detect an effect of this polymorphism on cognitive function. Our results suggest that it is unlikely that the SNP rs12344615 of the UBQLN1 gene is related to the onset of AD, PD or cognitive function.

Original publication




Journal article


Neurosci Lett

Publication Date





1 - 5


Adaptor Proteins, Signal Transducing, Age of Onset, Aged, Alzheimer Disease, Autophagy-Related Proteins, Brain Chemistry, Carrier Proteins, Cell Cycle Proteins, Cognition Disorders, Cohort Studies, DNA Mutational Analysis, Female, Genetic Linkage, Genetic Predisposition to Disease, Genetic Testing, Genotype, Heterozygote, Humans, Logistic Models, Male, Middle Aged, Netherlands, Parkinson Disease, Polymorphism, Single Nucleotide