Genetic Association Study of Common Mitochondrial Variants on Body Fat Mass
2011

Mitochondrial Variants and Body Fat Mass

Sample size: 2286 publication Evidence: moderate

Author Information

Author(s): Yang Tie-Lin, Guo Yan, Shen Hui, Lei Shu-Feng, Liu Yong-Jun, Li Jian, Liu Yao-Zhong, Yu Na, Chen Jia, Xu Ting, Cheng Yu, Tian Qing, Yu Ping, Papasian Christopher J., Deng Hong-Wen

Primary Institution: Key Laboratory of Biomedical Information Engineering of Ministry of Education, Xi'an Jiaotong University

Hypothesis

Common mtDNA variants influence obesity-related phenotypes, including BMI and body fat mass.

Conclusion

Common variants in mitochondrial DNA are associated with variations in body fat mass.

Supporting Evidence

  • Two mtSNPs, mt4823 and mt8873, were significantly associated with body fat mass.
  • Haplogroup X was strongly associated with lower BMI and body fat mass.
  • Subjects with haplogroup X had lower BMI and fat mass values compared to those without.
  • Genotyping was performed using the Affymetrix Genome-Wide Human SNP Array 6.0.
  • Quality control procedures ensured high accuracy in genotyping data.
  • Association analyses were adjusted for potential confounding factors.

Takeaway

Scientists studied DNA from people to see if certain genes affect how much body fat they have. They found some genes that seem to help control fat.

Methodology

The study involved genotyping 445 mitochondrial SNPs in 2,286 unrelated Caucasian subjects and conducting association analyses with BMI and body fat mass.

Limitations

The findings need replication in independent large samples, especially for haplogroup X which has a low frequency.

Participant Demographics

The sample consisted of 2,286 unrelated Caucasian adults, with 558 males and 1,727 females, aged approximately 51 years.

Statistical Information

P-Value

4.94×10-3 for mt4823, 4.58×10-2 for mt8873

Statistical Significance

p<0.05

Digital Object Identifier (DOI)

10.1371/journal.pone.0021595

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