title: Lack of relationship between mitochondrial heteroplasmy or variation and childhood obesity.
abstract: Mitochondrial electron transport has a central role in regulating energy supply within a cell. We hypothesized that mitochondrial variants or increased levels of mitochondrial heteroplasmy could be associated with common childhood obesity through their effects on mitochondrial function. To investigate this question, we queried two genome-wide genotyped childhood obesity datasets, consisting of 1080 European-American (EA) obese children (defined as BMI ≥ 95th percentile) together with 2500 EA lean controls (defined as BMI<50th percentile) and 1479 African-American (AA) obese children and 1575 AA lean controls. Association was not observed between childhood obesity and any of the assayed mitochondrial polymorphisms in either ethnicity. We also found no observable differences in heteroplasmy between each obese and non-obese group. Finally, we analyzed the quantitative mitochondrial genotype cells generated, whether they exceeded the heteroplasmy threshold or not. With this more lenient test, we found six positions with a significant difference between EA cases and controls (P<1 × 10(-4)). However, when evaluating the AA data set, no differences were noted at these sites, suggesting that our initial observations were because of chance rather than a meaningful relationship to childhood obesity. As such, it is unlikely that common mitochondrial polymorphisms or heteroplasmy have a role in childhood obesity.
authors: Center for Applied Genomics, The Children's Hospital of Philadelphia Research Institute, Philadelphia, PA 19104, USA. grants@chop.edu
authors: S F A
authors: SF
authors: Grant
authors: J T
authors: JT
authors: Glessner
authors: J P
authors: JP
authors: Bradfield
authors: J
authors: J
authors: Zhao
authors: J E
authors: JE
authors: Tirone
authors: R I
authors: RI
authors: Berkowitz
authors: H
authors: H
authors: Hakonarson
authors: N
authors: N
authors: Sondheimer
mesh_terms: D001741:Black or African American / Q000235:genetics*; D015992:Body Mass Index; D002648:Child; D004272:DNA, Mitochondrial / Q000235:genetics*; D005260:Female; D055106:Genome-Wide Association Study; D005838:Genotype; D006801:Humans; D008297:Male; D009765:Obesity / Q000453:epidemiology / Q000208:ethnology / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D016415:Sequence Alignment; D017422:Sequence Analysis, DNA; D044465:White People / Q000235:genetics*
chemical_list: D004272:DNA, Mitochondrial