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.

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Neuroscience Letters
Erasmus MC: University Medical Center Rotterdam

Brouwers, N., Sleegers, K., Engelborghs, S., Bogaerts, V., van Duijn, C., de Deyn, P., … Dermaut, B. (2006). The UBQLN1 polymorphism, UBQ-8i, at 9q22 is not associated with Alzheimer's disease with onset before 70 years. Neuroscience Letters, 392(1-2), 72–74. doi:10.1016/j.neulet.2005.08.064