Ubiquilin 1 polymorphisms are not associated with late-onset Alzheimer's disease

Scott Smemo, Petra Nowotny, Anthony L. Hinrichs, John S.K. Kauwe, Sara Cherny, Katherine Erickson, Amanda J. Myers, Mona Kaleem, Lauren Marlowe, Alison M. Gibson, Paul Hollingworth, Michael C. O'Donovan, Chris M. Morris, Peter Holmans, Simon Lovestone, John C. Morris, Leon Thal, Yonghong Li, Andrew Grupe, John HardyMichael J. Owen, Julie Williams, Alison Goate

Research output: Contribution to journalArticle

26 Scopus citations


Several studies have reported evidence for linkage of late-onset Alzheimer's disease (LOAD) to chromosome 9. Recently, an intronic polymorphism affecting alternative splicing of exon 8 of ubiquilin 1 (UBQLN1) was reported to be associated with LOAD. We attempted to replicate this observation by genotyping this polymorphism, rs12344615 (also known as UBQ-8i), in a large sample of 1,544 LOAD cases and 1,642 nondemented controls. We did not find any evidence that this single nucleotide polymorphism, or any of six others tested in UBQLN1, increases risk for LOAD.

Original languageEnglish (US)
Pages (from-to)21-26
Number of pages6
JournalAnnals of neurology
Issue number1
StatePublished - Jan 1 2006


ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

Cite this

Smemo, S., Nowotny, P., Hinrichs, A. L., Kauwe, J. S. K., Cherny, S., Erickson, K., Myers, A. J., Kaleem, M., Marlowe, L., Gibson, A. M., Hollingworth, P., O'Donovan, M. C., Morris, C. M., Holmans, P., Lovestone, S., Morris, J. C., Thal, L., Li, Y., Grupe, A., ... Goate, A. (2006). Ubiquilin 1 polymorphisms are not associated with late-onset Alzheimer's disease. Annals of neurology, 59(1), 21-26. https://doi.org/10.1002/ana.20673