Genetic variation of oxidative phosphorylation genes in stroke and Alzheimer's disease.

Neurobiol Aging
Authors
Alessandro Biffi
Mert Sabuncu
Rahul Desikan
Nick Schmansky
David Salat
Jonathan Rosand
Christopher Anderson
Alzheimer's disease Neuroimaging Initiative (ADNI)
Keywords
Female
Humans
Male
Aged
Signal Transduction
Alzheimer Disease
Oxidative Phosphorylation
Polymorphism, Single Nucleotide
Genetic Variation
Genetic Association Studies
Hippocampus
Magnetic Resonance Imaging
Organ Size
Risk
Stroke
Electron Transport Complex I
Cognitive Dysfunction
Entorhinal Cortex
Neuroimaging
Abstract

Previous research implicates alterations in oxidative phosphorylation (OXPHOS) in the development of Alzheimer's disease (AD). We sought to test whether genetic variants within OXPHOS genes increase the risk of AD. We first used gene-set enrichment analysis to identify associations, and then applied a previously replicated stroke genetic risk score to determine if OXPHOS genetic overlap exists between stroke and AD. Gene-set enrichment analysis identified associations between variation in OXPHOS genes and AD versus control status (p = 0.012). Conversion from cognitively normal controls to mild cognitive impairment was also associated with the OXPHOS gene-set (p = 0.045). Subset analyses demonstrated association for complex I genes (p

Year of Publication
2014
Journal
Neurobiol Aging
Volume
35
Issue
8
Pages
1956.e1-8
Date Published
2014 Aug
ISSN
1558-1497
URL
http://linkinghub.elsevier.com/retrieve/pii/S0197-4580(14)00163-8
DOI
10.1016/j.neurobiolaging.2014.01.141
PubMed ID
24650791
PubMed Central ID
PMC4329419
Links
Grant list
U24 RR021382 / RR / NCRR NIH HHS / United States
R01 NS070963 / NS / NINDS NIH HHS / United States
U01NS069763 / NS / NINDS NIH HHS / United States
P41-RR14075 / RR / NCRR NIH HHS / United States
K25 EB013649 / EB / NIBIB NIH HHS / United States
R01 AG026484 / AG / NIA NIH HHS / United States
R01 AG031224 / AG / NIA NIH HHS / United States
K23 NS086873 / NS / NINDS NIH HHS / United States
R01EB006758 / EB / NIBIB NIH HHS / United States
F30 AG041681 / AG / NIA NIH HHS / United States
R01-NS042861 / NS / NINDS NIH HHS / United States
P41-RR014075 / RR / NCRR NIH HHS / United States
R01 HL093023 / HL / NHLBI NIH HHS / United States
R01 NS052585-01 / NS / NINDS NIH HHS / United States
U01 AG024904 / AG / NIA NIH HHS / United States
AG02238 / AG / NIA NIH HHS / United States
R01 NS052585E01 / NS / NINDS NIH HHS / United States
U19 AG010483 / AG / NIA NIH HHS / United States
U01AG024904 / AG / NIA NIH HHS / United States
R01 EB001550 / EB / NIBIB NIH HHS / United States
R33-DA026104 / DA / NIDA NIH HHS / United States
P01 AG003991 / AG / NIA NIH HHS / United States
P50 AG005681 / AG / NIA NIH HHS / United States
R01AG031224 / AG / NIA NIH HHS / United States
T32 EB005970 / EB / NIBIB NIH HHS / United States
P41 RR014075 / RR / NCRR NIH HHS / United States
P01AG03991 / AG / NIA NIH HHS / United States
R01 NS052585 / NS / NINDS NIH HHS / United States
R01-NS070834 / NS / NINDS NIH HHS / United States
AG021910 / AG / NIA NIH HHS / United States
1K25EB013649-01 / EB / NIBIB NIH HHS / United States
K23 HL093023 / HL / NHLBI NIH HHS / United States
R01-NS070963 / NS / NINDS NIH HHS / United States
R01 NS042861 / NS / NINDS NIH HHS / United States
U01 NS069763 / NS / NINDS NIH HHS / United States
U01 NS069208 / NS / NINDS NIH HHS / United States
R01 NS059727 / NS / NINDS NIH HHS / United States
R01 RR16594-01A1 / RR / NCRR NIH HHS / United States
R01 NS063925 / NS / NINDS NIH HHS / United States
R01 AG021910 / AG / NIA NIH HHS / United States
R01 NS070834 / NS / NINDS NIH HHS / United States
R01NS059727 / NS / NINDS NIH HHS / United States
R33 DA026104 / DA / NIDA NIH HHS / United States
R01 RR016594 / RR / NCRR NIH HHS / United States
R01-AG026484 / AG / NIA NIH HHS / United States
P50AG05681 / AG / NIA NIH HHS / United States
U01NS069208 / NS / NINDS NIH HHS / United States
R01 EB006758 / EB / NIBIB NIH HHS / United States
R01NS063925 / NS / NINDS NIH HHS / United States
R01 NR010827 / NR / NINR NIH HHS / United States

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