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.
CITATION STYLE
Smemo, S., Nowotny, P., Hinrichs, A. L., Kauwe, J. S. K., Cherny, S., Erickson, K., … 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
Mendeley helps you to discover research relevant for your work.