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

TitleUbiquilin 1 polymorphisms are not associated with late-onset Alzheimer's disease.
Publication TypeJournal Article
Year of Publication2006
AuthorsSmemo, S, Nowotny, P, Hinrichs, AL, Kauwe, JSK, Cherny, S, Erickson, K, Myers, AJ, Kaleem, M, Marlowe, L, Gibson, AM, Hollingworth, P, O'Donovan, MC, Morris, CM, Holmans, P, Lovestone, S, Morris, JC, Thal, L, Li, Y, Grupe, A, Hardy, J, Owen, MJ, Williams, J, Goate, A
JournalAnn Neurol
Volume59
Issue1
Pagination21-6
Date Published2006 Jan
ISSN0364-5134
KeywordsAlzheimer Disease, Carrier Proteins, Cell Cycle Proteins, Female, Genotype, Haplotypes, Humans, Linkage Disequilibrium, Middle Aged, Polymorphism, Genetic, Risk Factors
Abstract

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.

DOI10.1002/ana.20673
Alternate JournalAnn. Neurol.
PubMed ID16278862
Grant ListP50 AG 05681 / AG / NIA NIH HHS / United States
P50 AG 05131 / AG / NIA NIH HHS / United States
AG 16208 / AG / NIA NIH HHS / United States
G0701075 / / Medical Research Council / United Kingdom
G0300429 / / Medical Research Council / United Kingdom
P01 AG 03991 / AG / NIA NIH HHS / United States
G9810900 / / Medical Research Council / United Kingdom