RGD Reference Report - Association study of two genetic variants in mitochondrial transcription factor A (TFAM) in Alzheimer's and Parkinson's disease. - Rat Genome Database

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Association study of two genetic variants in mitochondrial transcription factor A (TFAM) in Alzheimer's and Parkinson's disease.

Authors: Belin, AC  Bjork, BF  Westerlund, M  Galter, D  Sydow, O  Lind, C  Pernold, K  Rosvall, L  Hakansson, A  Winblad, B  Nissbrandt, H  Graff, C  Olson, L 
Citation: Belin AC, etal., Neurosci Lett. 2007 Jun 15;420(3):257-62. Epub 2007 May 10.
RGD ID: 6771185
Pubmed: PMID:17537576   (View Abstract at PubMed)
DOI: DOI:10.1016/j.neulet.2007.05.010   (Journal Full-text)

Mitochondrial (mt) dysfunction has been implicated in Alzheimer's (AD) and Parkinson's disease (PD). Mitochondrial transcription factor A (TFAM) is needed for mtDNA maintenance, regulating mtDNA copy number and is absolutely required for transcriptional initiation at mtDNA promoters. Two genetic variants in TFAM have been reported to be associated with AD in a Caucasian case-control material collected from Germany, Switzerland and Italy. One of these variants was reported to show a tendency for association with AD in a pooled Scottish and Swedish case-control material and the other variant was reported to be associated with AD in a recent meta-analysis. We investigated these two genetic variants, rs1937 and rs2306604, in an AD and a PD case-control material, both from Sweden and found significant genotypic as well as allelic association to marker rs2306604 in the AD case-control material (P=0.05 and P=0.03, respectively), where the A-allele appears to increase risk for developing AD. No association was observed for marker rs1937. We did not find any association in the PD case-control material for either of the two markers. The distribution of the two-locus haplotype frequencies (based on rs1937 and rs2306604) did not differ significantly between affected individuals and controls in the two sample sets. However, the global P-value for haplotypic association testing indicated borderline association in the AD sample set. Our data suggests that the rs2306604 A-allele could be a moderate risk factor for AD, which is supported by the recent meta-analysis.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Alzheimer's disease susceptibilityIAGP 6771185DNA:SNP:intron:IVS4+113A>G (rs2306604) (human)RGD 
Alzheimer's disease susceptibilityISOTFAM (Homo sapiens)6771185; 6771185DNA:SNP:intron:IVS4+113A>G (rs2306604) (human)RGD 
Parkinson's disease no_associationIAGP 6771185DNA:missense mutation more ...RGD 
Parkinson's disease no_associationISOTFAM (Homo sapiens)6771185; 6771185DNA:missense mutation more ...RGD 

Phenotype Annotations    Click to see Annotation Detail View

Manual Human Phenotype Annotations - RGD

TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Bradykinesia no_associationIAGP 6771185DNA:missense mutation more ...RGD 
Lewy bodies no_associationIAGP 6771185DNA:missense mutation more ...RGD 
Neurodegeneration no_associationIAGP 6771185DNA:missense mutation more ...RGD 
Parkinsonism no_associationIAGP 6771185DNA:missense mutation more ...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