Please use this identifier to cite or link to this item: https://doi.org/10.1371/journal.pone.0021595
Title: Genetic association study of common mitochondrial variants on body fat mass
Authors: Yang T.-L.
Guo Y.
Shen H. 
Lei S.-F.
Liu Y.-J.
Li J.
Liu Y.-Z.
Yu N.
Chen J.
Xu T.
Cheng Y.
Tian Q.
Yu P.
Papasian C.J.
Deng H.-W.
Keywords: adenosine triphosphatase
adenosine triphosphatase f0 subunit 6
mitochondrial DNA
reduced nicotinamide adenine dinucleotide dehydrogenase
reduced nicotinamide adenine dinucleotide dehydrogenase 2
unclassified drug
mitochondrial DNA
adult
allele
article
ATPase6 gene
body fat
body mass
Caucasian
controlled study
effect size
European American
female
genetic association
genetic variability
genotype
haplotype
human
human experiment
male
mitochondrial gene
mitochondrial genome
obesity
phenotype
reduced nicotinamide adenine dinucleotide dehydrogenase 2 gene
single nucleotide polymorphism
adipose tissue
body mass
genetics
metabolism
middle aged
mitochondrion
pathophysiology
quality control
single nucleotide polymorphism
Adipose Tissue
Body Mass Index
DNA, Mitochondrial
European Continental Ancestry Group
Female
Genome, Mitochondrial
Genome-Wide Association Study
Haplotypes
Humans
Male
Middle Aged
Mitochondria
Obesity
Phenotype
Polymorphism, Single Nucleotide
Quality Control
Issue Date: 2011
Citation: Yang T.-L., Guo Y., Shen H., Lei S.-F., Liu Y.-J., Li J., Liu Y.-Z., Yu N., Chen J., Xu T., Cheng Y., Tian Q., Yu P., Papasian C.J., Deng H.-W. (2011). Genetic association study of common mitochondrial variants on body fat mass. PLoS ONE 6 (6) : e21595. ScholarBank@NUS Repository. https://doi.org/10.1371/journal.pone.0021595
Abstract: Mitochondria play a central role in ATP production and energy metabolism. Previous studies suggest that common variants in mtDNA are associated with several common complex diseases, including obesity. To test the hypothesis that common mtDNA variants influence obesity-related phenotypes, including BMI and body fat mass, we genotyped a total of 445 mtSNPs across the whole mitochondrial genome in a large sample of 2,286 unrelated Caucasian subjects. 72 of these 445 mtSNPs passed quality control criteria, and were used for subsequent analyses. We also classified all subjects into nine common European haplogroups. Association analyses were conducted for both BMI and body fat mass with single mtSNPs and mtDNA haplogroups. Two mtSNPs, mt4823 and mt8873 were detected to be significantly associated with body fat mass, with adjusted P values of 4.94×10-3 and 4.58×10-2, respectively. The minor alleles mt4823 C and mt8873 A were associated with reduced fat mass values and the effect size (?) was estimated to be 3.52 and 3.18, respectively. These two mtSNPs also achieved nominally significant levels for association with BMI. For haplogroup analyses, we found that haplogroup X was strongly associated with both BMI (adjusted P = 8.31×10-3) and body fat mass (adjusted P = 5.67×10-4) Subjects classified as haplogroup X had lower BMI and fat mass values, with the ? estimated to be 2.86 and 6.03, respectively. Our findings suggest that common variants in mitochondria might play a role in variations of body fat mass. Further molecular and functional studies will be needed to clarify the potential mechanism. © 2011 Yang et al.
Source Title: PLoS ONE
URI: https://scholarbank.nus.edu.sg/handle/10635/162045
ISSN: 19326203
DOI: 10.1371/journal.pone.0021595
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