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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 publication




Journal article


Ann Neurol

Publication Date





21 - 26


Alzheimer Disease, Carrier Proteins, Cell Cycle Proteins, Female, Genotype, Haplotypes, Humans, Linkage Disequilibrium, Middle Aged, Polymorphism, Genetic, Risk Factors