1. Ubiquilin 1 polymorphisms are not associated with late-onset Alzheimer's disease
- Author
-
Christopher Morris, Julie Williams, Paul Hollingworth, Simon Lovestone, Lauren Marlowe, Mona Kaleem, Michael Conlon O'Donovan, Amanda J. Myers, Leon J. Thal, Peter Holmans, John S. K. Kauwe, Andrew Grupe, Scott Smemo, Michael John Owen, Alison M. Gibson, Sara Cherny, Katherine Erickson, John C. Morris, Petra Nowotny, Alison Goate, John Hardy, Anthony L. Hinrichs, and Yonghong Li
- Subjects
Candidate gene ,Genotype ,Autophagy-Related Proteins ,Cell Cycle Proteins ,Chromosome 9 ,Single-nucleotide polymorphism ,Linkage Disequilibrium ,UBQLN1 ,Exon ,Alzheimer Disease ,Risk Factors ,Humans ,Medicine ,Allele ,Genotyping ,Adaptor Proteins, Signal Transducing ,Genetics ,Polymorphism, Genetic ,business.industry ,Middle Aged ,medicine.disease ,Haplotypes ,Neurology ,Female ,Neurology (clinical) ,Alzheimer's disease ,Carrier Proteins ,business - 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. Williams J, Goate A.
- Published
- 2005
- Full Text
- View/download PDF