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Analysis of Genes Involved in Body Weight Regulation by Targeted Re-Sequencing.

Anna-Lena Volckmar1, Chung Ting Han2,3, Carolin Pütter4

  • 1Department of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy, University Hospital Essen, Essen, Germany.

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|February 2, 2016
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Summary

Researchers investigated genes related to body weight regulation in extremely obese and lean individuals. A rare variant potentially affecting FTO function was found in a lean person, while a TBC1D1 loss-of-function variant was identified in an obese individual.

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Area of Science:

  • Genetics
  • Obesity Research
  • Molecular Biology

Background:

  • Genes influencing body weight regulation are key targets for obesity research.
  • Previous genome-wide association studies (GWAS) and animal models identified candidate genes.
  • Target enrichment and next-generation sequencing were employed to investigate these genes.

Purpose of the Study:

  • To identify novel genetic variants associated with extreme obesity.
  • To investigate the functional impact of identified variants in genes like FTO and TBC1D1.
  • To explore the genetic underpinnings of body weight regulation.

Main Methods:

  • Target enrichment and re-sequencing of 7 specific genes (FTO, MC4R, TMEM18, SDCCAG8, TKNS, MSRA, TBC1D1).
  • Screening of 196 extremely obese children/adolescents and 176 lean adults.
  • Genotyping in 705 obesity trios, 243 obese cases, and 261 lean adults.

Main Results:

  • Identified 20 non-synonymous variants, one frameshift, and one nonsense mutation.
  • A nominally associated SNP (Arg695Cys) in TBC1D1 (pTDT = 0.03) was detected in trios.
  • Rare variants were found, including a potential FTO loss-of-function variant in a lean individual and a TBC1D1 loss-of-function variant in an obese individual.

Conclusions:

  • Rare variants in obesity-related genes were identified in individuals with extreme weight phenotypes.
  • A potential FTO loss-of-function variant in a lean individual warrants further investigation.
  • Functional in vitro studies are necessary to confirm the impact of identified variants, particularly in TBC1D1.