Ubiquilin 1 polymorphisms are not associated with late-onset Alzheimer's disease.
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.
Smemo
Scott
S
Department of Psychiatry, Washington University School of Medicine, 660 S. Euclid Street, St. Louis, MO 63110, USA.
Nowotny
Petra
P
Hinrichs
Anthony L
AL
Kauwe
John S K
JS
Cherny
Sara
S
Erickson
Katherine
K
Myers
Amanda J
AJ
Kaleem
Mona
M
Marlowe
Lauren
L
Gibson
Alison M
AM
Hollingworth
Paul
P
O'Donovan
Michael C
MC
Morris
Chris M
CM
Holmans
Peter
P
Lovestone
Simon
S
Morris
John C
JC
Thal
Leon
L
Li
Yonghong
Y
Grupe
Andrew
A
Hardy
John
J
Owen
Michael J
MJ
Williams
Julie
J
Goate
Alison
A
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
D048868:Adaptor Proteins, Signal Transducing; D000071183:Autophagy-Related Proteins; D002352:Carrier Proteins; D018797:Cell Cycle Proteins; C107792:UBQLN1 protein, human