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Association study o...
Association study of two genetic variants in mitochondrial transcription factor A (TFAM) in Alzheimer's and Parkinson's disease.
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- Belin, Andrea Carmine (author)
- Karolinska Institutet
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Björk, Behnosh F (author)
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- Westerlund, Marie (author)
- Karolinska Institutet
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- Galter, Dagmar (author)
- Karolinska Institutet
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- Sydow, Olof (author)
- Karolinska Institutet
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Lind, Charlotta (author)
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- Pernold, Karin (author)
- Karolinska Institutet
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- Rosvall, Lina (author)
- Karolinska Institutet
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- Håkansson, Anna, 1978 (author)
- Gothenburg University,Göteborgs universitet,Institutionen för neurovetenskap och fysiologi, sektionen för farmakologi,Institute of Neuroscience and Physiology, Department of Pharmacology
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- Winblad, Bengt (author)
- Karolinska Institutet
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- Nissbrandt, Hans, 1952 (author)
- Gothenburg University,Göteborgs universitet,Institutionen för neurovetenskap och fysiologi, sektionen för farmakologi,Institute of Neuroscience and Physiology, Department of Pharmacology
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- Graff, Caroline (author)
- Karolinska Institutet
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- Olson, Lars (author)
- Karolinska Institutet
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(creator_code:org_t)
- Elsevier BV, 2007
- 2007
- English.
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In: Neuroscience letters. - : Elsevier BV. - 0304-3940. ; 420:3, s. 257-62
- Related links:
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https://gup.ub.gu.se...
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https://doi.org/10.1...
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Abstract
Subject headings
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- 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.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Fysiologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Physiology (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Neurologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Neurology (hsv//eng)
Keyword
- Aged
- Alleles
- Alzheimer Disease
- genetics
- DNA
- genetics
- DNA-Binding Proteins
- genetics
- Female
- Gene Frequency
- Genotype
- Haplotypes
- Humans
- Male
- Middle Aged
- Mitochondrial Proteins
- genetics
- Parkinson Disease
- genetics
- Reverse Transcriptase Polymerase Chain Reaction
- Sweden
- Transcription Factors
- genetics
- Variation (Genetics)
Publication and Content Type
- ref (subject category)
- art (subject category)
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- By the author/editor
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Belin, Andrea Ca ...
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Björk, Behnosh F
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Westerlund, Mari ...
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Galter, Dagmar
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Sydow, Olof
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Lind, Charlotta
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show more...
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Pernold, Karin
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Rosvall, Lina
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Håkansson, Anna, ...
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Winblad, Bengt
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Nissbrandt, Hans ...
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Graff, Caroline
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Olson, Lars
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- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Basic Medicine
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and Physiology
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Clinical Medicin ...
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and Neurology
- Articles in the publication
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Neuroscience let ...
- By the university
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University of Gothenburg
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Karolinska Institutet