RGD Reference Report - The impact of mitochondrial and nuclear DNA variants on late-onset Alzheimer's disease risk. - Rat Genome Database

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The impact of mitochondrial and nuclear DNA variants on late-onset Alzheimer's disease risk.

Authors: Maruszak, A  Safranow, K  Branicki, W  Gaweda-Walerych, K  Pospiech, E  Gabryelewicz, T  Canter, JA  Barcikowska, M  Zekanowski, C 
Citation: Maruszak A, etal., J Alzheimers Dis. 2011;27(1):197-210. doi: 10.3233/JAD-2011-110710.
RGD ID: 6767575
Pubmed: PMID:21799244   (View Abstract at PubMed)
DOI: DOI:10.3233/JAD-2011-110710   (Journal Full-text)

We investigated the potential contribution of mitochondrial DNA (mtDNA) variants, haplogroups, and polymorphisms in nuclear genes essential for mitochondrial biogenesis and function (PGC-1alpha TFAM) to late-onset Alzheimer's disease (LOAD) risk. Epistatic interaction analysis was conducted between the studied variables. Our results demonstrate that mtDNA haplogroups and subhaplogroups with putative role in partial uncoupling of oxidative phosphorylation are significantly associated with a decreased LOAD risk (OR <1). Conversely, mtDNA haplogroup H (p = 0.049) and HV cluster (p = 0.018) are significant LOAD risk factors, which was additionally confirmed by meta-analysis (OR = 1.22, OR = 1.25, respectively). Haplogroup K was demonstrated to exert a neutralizing effect on the high risk associated with APOE4+ status (p = 0.014). Further, two synergistic interactions between subhaplogroup H5 and APOE4 status (p = 0.009) and between TFAM rs1937 and APOE4 status (p < 0.001) were detected, influencing LOAD risk. No interaction pointing to a dual mitochondrial-nuclear genome variation effect on LOAD occurrence was identified.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Alzheimer's disease  IAGP 6767575DNA:SNP: :rs1937 (human)RGD 
Alzheimer's disease  ISOTFAM (Homo sapiens)6767575; 6767575DNA:SNP: :rs1937 (human)RGD 

Objects Annotated

Genes (Rattus norvegicus)
Tfam  (transcription factor A, mitochondrial)

Genes (Mus musculus)
Tfam  (transcription factor A, mitochondrial)

Genes (Homo sapiens)
TFAM  (transcription factor A, mitochondrial)


Additional Information