Neurobiol Aging. 2014 Aug;35(8):1956.e1-8 doi: 10.1016/j.neurobiolaging.2014.01.141. 2014 Feb 05.

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

Biffi A, Sabuncu MR, Desikan RS, Schmansky N, Salat DH, Rosand J, Anderson CD; Alzheimer's disease Neuroimaging Initiative (ADNI).


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

PMID: 24650791