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Alzheimer's and cacna1c

Timothy J Hohman, William S Bush, Lan Jiang, Kristin D Brown-Gentry, Eric S Torstenson, Scott M Dudek, Shubhabrata Mukherjee, Adam Naj, Brian W Kunkle, Marylyn D Ritchie, Eden R Martin, Gerard D Schellenberg, Richard Mayeux, Lindsay A Farrer, Margaret A Pericak-Vance, Jonathan L Haines, Tricia A Thornton-Wells
Late-onset Alzheimer disease (AD) has a complex genetic etiology, involving locus heterogeneity, polygenic inheritance, and gene-gene interactions; however, the investigation of interactions in recent genome-wide association studies has been limited. We used a biological knowledge-driven approach to evaluate gene-gene interactions for consistency across 13 data sets from the Alzheimer Disease Genetics Consortium. Fifteen single nucleotide polymorphism (SNP)-SNP pairs within 3 gene-gene combinations were identified: SIRT1 × ABCB1, PSAP × PEBP4, and GRIN2B × ADRA1A...
February 2016: Neurobiology of Aging
Mary Ellen I Koran, Timothy J Hohman, Tricia A Thornton-Wells
Late-onset Alzheimer's disease (LOAD) is known to have a complex, oligogenic etiology, with considerable genetic heterogeneity. We investigated the influence of genetic interactions between genes in the Alzheimer's disease (AD) pathway on amyloid-beta (Aβ) deposition as measured by PiB or AV-45 ligand positron emission tomography (PET) to aid in understanding LOAD's genetic etiology. Subsets of the Alzheimer's Disease Neuroimaging Initiative (ADNI) cohorts were used for discovery and for two independent validation analyses...
January 2014: Human Genetics
M Li, X-J Luo, M Rietschel, C M Lewis, M Mattheisen, B Müller-Myhsok, S Jamain, M Leboyer, M Landén, P M Thompson, S Cichon, M M Nöthen, T G Schulze, P F Sullivan, S E Bergen, G Donohoe, D W Morris, A Hargreaves, M Gill, A Corvin, C Hultman, A W Toga, L Shi, Q Lin, H Shi, L Gan, A Meyer-Lindenberg, D Czamara, C Henry, B Etain, J C Bis, M A Ikram, M Fornage, S Debette, L J Launer, S Seshadri, S Erk, H Walter, A Heinz, F Bellivier, J L Stein, S E Medland, A Arias Vasquez, D P Hibar, B Franke, N G Martin, M J Wright, B Su
Bipolar disorder (BD) is a polygenic disorder that shares substantial genetic risk factors with major depressive disorder (MDD). Genetic analyses have reported numerous BD susceptibility genes, while some variants, such as single-nucleotide polymorphisms (SNPs) in CACNA1C have been successfully replicated, many others have not and subsequently their effects on the intermediate phenotypes cannot be verified. Here, we studied the MDD-related gene CREB1 in a set of independent BD sample groups of European ancestry (a total of 64,888 subjects) and identified multiple SNPs significantly associated with BD (the most significant being SNP rs6785[A], P=6...
April 2014: Molecular Psychiatry
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