@article{3ea6810c66834aaf86af3bf6fa105a16,
title = "Association of common KIBRA variants with episodic memory and AD risk",
abstract = "KIBRA single nucleotide polymorphism (SNP) rs17070145 was identified in a genome-wide association study (GWAS) of memory performance, with some but not all follow-up studies confirming association of its T allele with enhanced memory. This allele was associated with reduced Alzheimer's disease (AD) risk in 1 study, which also found overexpression of KIBRA in memory-related brain regions of AD. We genotyped rs17070145 and 14 additional SNPs in 2571 late onset Alzheimer's disease (LOAD) patients vs. 2842 controls, including African-Americans. We found significantly reduced risk for rs17070145 T allele in the older African-American subjects (p = 0.007) and a suggestive effect in the older Caucasian series. Meta-analysis of this allele in > 8000 subjects from our and published series showed a suggestive protective effect (p = 0.07). Analysis of episodic memory in control subjects did not identify associations with rs17070145, though other SNPs showed significant associations in 1 series. KIBRA showed evidence of overexpression in the AD temporal cortex (p = 0.06) but not cerebellum. These results suggest a modest role for KIBRA as a cognition and AD risk gene, and also highlight the multifactorial complexity of its genetic associations.",
keywords = "Alzheimer's disease, Association studies in genetics, Case control studies, Episodic memory, Gene expression, KIBRA",
author = "Burgess, {Jeremy D.} and Otto Pedraza and Graff-Radford, {Neill R.} and Meron Hirpa and Fanggeng Zou and Richard Miles and Thuy Nguyen and Ma Li and Lucas, {John A.} and Ivnik, {Robert J.} and Julia Crook and Pankratz, {V. Shane} and Dickson, {Dennis W.} and Petersen, {Ronald C.} and Younkin, {Steven G.} and Nil{\"u}fer Ertekin-Taner",
note = "Funding Information: N. Graff-Radford, M.D. has served as a consultant to Codman and received grant support from Elan Pharmaceutical Research , Pfizer Pharmaceuticals , Medivation , and Forrest . R.C. Petersen, M.D., Ph.D. has been a consultant to GE Healthcare and Elan Pharmaceuticals, has served on a data safety monitoring board in a clinical trial sponsored by Elan Pharmaceuticals, and a safety monitoring board for Wyeth Pharmaceuticals. The remaining authors report no disclosures. Funding Information: Support for this research was provided by the National Institutes of Health grants: National Institute on Aging ( R01 032990 to NET and R01 AG018023 to NRG-R and SGY); Mayo Alzheimer's Disease Research Center : ( P50 AG016574 to RCP, DWD, NRG-R, SGY, and NET); Mayo Alzheimer's Disease Patient Registry : ( U01 AG006576 to RCP); National Institute on Aging ( AG025711 , AG017216 , AG003949 to DWD). This project was also generously supported by the Robert and Clarice Smith and Abigail Van Buren Alzheimer's Disease Research Program (to RCP, DWD, NRG-R, and SGY), and by the Palumbo Professorship in Alzheimer's Disease Research (to SGY). O.P. is the recipient of a National Institutes of Health ( NS054722 ) grant. N.E.T. is the recipient of National Institute on Aging ( F32 AG20903 ), National Institutes of Health ( KL2 RR024151 ), and Johnnie B. Byrd and Siragusa Foundation grants. ",
year = "2011",
month = mar,
doi = "10.1016/j.neurobiolaging.2010.11.004",
language = "English (US)",
volume = "32",
pages = "557.e1--557.e9",
journal = "Neurobiology of aging",
issn = "0197-4580",
publisher = "Elsevier Inc.",
number = "3",
}