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An intronic polymorphism affecting alternative splicing of exon 8 of ubiquilin 1 (UBQLN1), that is located at a well established Alzheimer's disease (AD) locus on chromosome 9q22, was recently associated with increased risk for late-onset AD. We analyzed this polymorphism in two independent AD samples consisting of patients with an onset age 70 years or less, but did not observe statistically significant association. Our study does not support a major role for this UBQLN1 polymorphism in AD patients with an earlier onset of disease.

Original publication




Journal article


Neurosci Lett

Publication Date





72 - 74


Adaptor Proteins, Signal Transducing, Age of Onset, Aged, Alzheimer Disease, Autophagy-Related Proteins, Carrier Proteins, Case-Control Studies, Cell Cycle Proteins, Chromosomes, Human, Pair 9, Female, Gene Frequency, Genotype, Humans, Male, Middle Aged, Polymorphism, Genetic