Mutation screen and association studies in the Diacylglycerol O-acyltransferase homolog 2 gene (DGAT2), a positional candidate gene for early onset obesity on chromosome 11q13
2007

Genetic Variations in DGAT2 and Their Association with Obesity

Sample size: 361 publication Evidence: low

Author Information

Author(s): Susann Friedel, Kathrin Reichwald, André Scherag, Harald Brumm, Anne-Kathrin Wermter, Hans-Rudolf Fries, Kerstin Koberwitz, Martin Wabitsch, Thomas Meitinger, Matthias Platzer, Heike Biebermann, Anke Hinney, Johannes Hebebrand

Primary Institution: University of Duisburg-Essen

Hypothesis

Genetic variations in DGAT2 might alter triglyceride synthesizing activity of the protein in humans.

Conclusion

Our results do not support the hypothesis of an important role of common genetic variation in DGAT2 for the development of obesity in our sample.

Supporting Evidence

  • The mutation screen revealed 15 DNA variants, four of which were coding non-synonymous exchanges.
  • None of the case control and family based association studies showed an association of investigated variants or haplotypes in the genomic region of DGAT2.
  • Most of the variants were rare, leading to insufficient statistical power for comparison in case control association analysis.

Takeaway

The study looked at a gene related to fat metabolism to see if it affects obesity, but found no strong evidence that common genetic changes in this gene are linked to being overweight.

Methodology

A mutation screen was performed in 93 extremely obese children and adolescents and 94 healthy underweight controls, with association studies in samples of up to 361 extremely obese children and adolescents and 445 healthy controls.

Limitations

The study had insufficient statistical power to explore the less common variants (MAF < 0.1).

Participant Demographics

The study included extremely obese children and adolescents, with a mean BMI of 34.7 ± 6.3 kg/m2 and a mean age of 14.4 ± 2.6 years.

Digital Object Identifier (DOI)

10.1186/1471-2156-8-17

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