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Association study of two genetic variants in mitochondrial transcription factor A (TFAM) in Alzheimer's and Parkinson's disease.
Neurosci Lett. 2007 Jun 15; 420(3):257-62.NL

Abstract

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.

Authors+Show Affiliations

Department of Neuroscience, Karolinska Institutet, and Karolinska University Hospital, Stockholm, Sweden. Andrea.Carmine.Belin@ki.seNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't
Research Support, U.S. Gov't, P.H.S.

Language

eng

PubMed ID

17537576

Citation

Belin, Andrea Carmine, et al. "Association Study of Two Genetic Variants in Mitochondrial Transcription Factor a (TFAM) in Alzheimer's and Parkinson's Disease." Neuroscience Letters, vol. 420, no. 3, 2007, pp. 257-62.
Belin AC, Björk BF, Westerlund M, et al. Association study of two genetic variants in mitochondrial transcription factor A (TFAM) in Alzheimer's and Parkinson's disease. Neurosci Lett. 2007;420(3):257-62.
Belin, A. C., Björk, B. F., Westerlund, M., Galter, D., Sydow, O., Lind, C., Pernold, K., Rosvall, L., Håkansson, A., Winblad, B., Nissbrandt, H., Graff, C., & Olson, L. (2007). Association study of two genetic variants in mitochondrial transcription factor A (TFAM) in Alzheimer's and Parkinson's disease. Neuroscience Letters, 420(3), 257-62.
Belin AC, et al. Association Study of Two Genetic Variants in Mitochondrial Transcription Factor a (TFAM) in Alzheimer's and Parkinson's Disease. Neurosci Lett. 2007 Jun 15;420(3):257-62. PubMed PMID: 17537576.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Association study of two genetic variants in mitochondrial transcription factor A (TFAM) in Alzheimer's and Parkinson's disease. AU - Belin,Andrea Carmine, AU - Björk,Behnosh F, AU - Westerlund,Marie, AU - Galter,Dagmar, AU - Sydow,Olof, AU - Lind,Charlotta, AU - Pernold,Karin, AU - Rosvall,Lina, AU - Håkansson,Anna, AU - Winblad,Bengt, AU - Nissbrandt,Hans, AU - Graff,Caroline, AU - Olson,Lars, Y1 - 2007/05/10/ PY - 2007/03/19/received PY - 2007/05/02/revised PY - 2007/05/03/accepted PY - 2007/6/1/pubmed PY - 2007/9/27/medline PY - 2007/6/1/entrez SP - 257 EP - 62 JF - Neuroscience letters JO - Neurosci Lett VL - 420 IS - 3 N2 - 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. SN - 0304-3940 UR - https://www.unboundmedicine.com/medline/citation/17537576/Association_study_of_two_genetic_variants_in_mitochondrial_transcription_factor_A__TFAM__in_Alzheimer's_and_Parkinson's_disease_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S0304-3940(07)00560-5 DB - PRIME DP - Unbound Medicine ER -