title: Ubiquilin 1 polymorphisms are not associated with late-onset Alzheimer's disease.
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.
authors.affiliation: Department of Psychiatry, Washington University School of Medicine, 660 S. Euclid Street, St. Louis, MO 63110, USA.
authors.forename: Scott
authors.initials: S
authors.lastname: Smemo
authors.forename: Petra
authors.initials: P
authors.lastname: Nowotny
authors.forename: Anthony L
authors.initials: AL
authors.lastname: Hinrichs
authors.forename: John S K
authors.initials: JS
authors.lastname: Kauwe
authors.forename: Sara
authors.initials: S
authors.lastname: Cherny
authors.forename: Katherine
authors.initials: K
authors.lastname: Erickson
authors.forename: Amanda J
authors.initials: AJ
authors.lastname: Myers
authors.forename: Mona
authors.initials: M
authors.lastname: Kaleem
authors.forename: Lauren
authors.initials: L
authors.lastname: Marlowe
authors.forename: Alison M
authors.initials: AM
authors.lastname: Gibson
authors.forename: Paul
authors.initials: P
authors.lastname: Hollingworth
authors.forename: Michael C
authors.initials: MC
authors.lastname: O'Donovan
authors.forename: Chris M
authors.initials: CM
authors.lastname: Morris
authors.forename: Peter
authors.initials: P
authors.lastname: Holmans
authors.forename: Simon
authors.initials: S
authors.lastname: Lovestone
authors.forename: John C
authors.initials: JC
authors.lastname: Morris
authors.forename: Leon
authors.initials: L
authors.lastname: Thal
authors.forename: Yonghong
authors.initials: Y
authors.lastname: Li
authors.forename: Andrew
authors.initials: A
authors.lastname: Grupe
authors.forename: John
authors.initials: J
authors.lastname: Hardy
authors.forename: Michael J
authors.initials: MJ
authors.lastname: Owen
authors.forename: Julie
authors.initials: J
authors.lastname: Williams
authors.forename: Alison
authors.initials: A
authors.lastname: Goate
mesh_terms: D048868:Adaptor Proteins, Signal Transducing; D000544:Alzheimer Disease / Q000235:genetics* / Q000378:metabolism; D000071183:Autophagy-Related Proteins; D002352:Carrier Proteins / Q000235:genetics* / Q000378:metabolism; D018797:Cell Cycle Proteins / Q000235:genetics* / Q000378:metabolism; D005260:Female; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D015810:Linkage Disequilibrium; D008875:Middle Aged; D011110:Polymorphism, Genetic; D012307:Risk Factors
chemical_list: D048868:Adaptor Proteins, Signal Transducing; D000071183:Autophagy-Related Proteins; D002352:Carrier Proteins; D018797:Cell Cycle Proteins; C107792:UBQLN1 protein, human