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• W2897097926 abstract "The central nervous system is vulnerable to impaired mitochondrial metabolism, with evidence linking mitochondrial dysfunction to neurodegenerative disease including Alzheimer's disease. Variation within nuclear-encoded mitochondrial genes and the mitochondrial genome may interact to influence mitochondrial function and dementia risk. We investigated associations between mitochondrial haplogroups and their interactions with a polygenic risk score based on nuclear-encoded mitochondrial genes (n-mtPGS) with risk of dementia and age of onset of dementia (AOO). Participants were adults of European ancestry from the Alzheimer's Disease Neuroimaging Initiative (ADNI). Mitochondri- al haplogroups were assigned based on resequenced mitochondrial genomes for 612 participants, and 138 typed and 88 imputed SNPs in 435 participants. We imputed microarray genotyped nDNA using the Haplotype Reference Consortium panel. A mitochondrial specific weighted polygenic score was con-structed using Alzheimer's disease associated SNPs in the 1,158 mitochondrial nuclear-encoded genes. Logistic regressions was used to determine the effect of mitochondrial and n-mtPGS on dementia status at baseline (332 controls / 204 cases). Cox proportional hazards models were used to model dementia AOO (n=1047; 433 incident cases). Additionally, we tested for interactions between n-mtPGS and haplogroups in the logistic and Cox models. Models were covaried for sex, age, APOE status, and two principal com-ponents of population structure. Interactions between mitochondrial haplogroups and nuclear-encoded mitochondrial genes on baseline risk of dementia were evaluated using MAGMA. Haplogroup K (OR=2.01 [1.003, 4.05]) and a one SD larger n-mtPGS (OR=2.17 [1.68, 2.85]) were associated with elevated odds of dementia. Significant interactions between the n-mtPGS and Haplogroups K (OR=0.43, [0.21, 0.87]) and T (OR=0.22, [0.10, 0.50]) were observed. Significant (FDR < 0.05) Haplogroup—Gene interactions were observed between H- COX15, SLC25A28 and PLGRKT, J—BCKDHB and I—GSR. A one SD larger n-mtPGS was associated with dementia AOO (HR=1.42 [1.27, 1.59]). Individual haplogroups were not associated with AOO, however significant interactions were observed between the n-mtPGS and haplogroup T (HR=0.64 [0.43, 0.94]) and V (HR=2.36 [1.29, 4.31]). These results suggest that mitochondrial haplogroups influence dementia risk, and that variants in the nuclear and mitochondrial genome interact to influence age of onset. Further replication is warranted." @default.
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• W2897097926 date "2018-07-01" @default.
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• W2897097926 title "P4‐244: MITOCHONDRIAL HAPLOGROUPS AND A NUCLEAR ENCODED MITOCHONDRIAL POLYGENIC RISK SCORE INTERACT TO INFLUENCE DEMENTIA RISK" @default.
• W2897097926 doi "https://doi.org/10.1016/j.jalz.2018.07.065" @default.
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