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Emma A Nilsson

Assistant researcher

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The hormone-sensitive lipase C-60G promoter polymorphism is associated with increased waist circumference in normal-weight subjects.

Author

  • Emma A Nilsson
  • L Johansson
  • Kristoffer Ström
  • J Hoffstedt
  • Leif Groop
  • Cecilia Holm
  • Martin Ridderstråle

Summary, in English

OBJECTIVE: Hormone-sensitive lipase (HSL) is a key enzyme in the mobilization of fatty acids from triglyceride stores in adipocytes. The aim of the present study was to investigate the role of the HSL gene promoter variant C-60G, a polymorphism which previously has been associated with reduced promoter activity in vitro, in obesity and type 2 diabetes. DESIGN: We genotyped two materials consisting of obese subjects and non-obese controls, one material with offspring-parents trios, where the offspring was abdominally obese and one material with trios, where the offspring had type 2 diabetes or impaired glucose homeostasis. HSL promoter containing the HSL C-60G G-allele was generated and tested against a construct with the C-allele in HeLa cells and primary rat adipocytes. HSL mRNA levels were quantified in subcutaneous and visceral fat from 33 obese subjects. RESULTS: We found that the common C-allele was associated with increased waist circumference and WHR in lean controls, but there was no difference in genotype frequency between obese and non-obese subjects. There was a significant increased transmission of C-alleles to the abdominally obese offspring but no increased transmission of C-alleles was observed to offspring with impaired glucose homeostasis. The G-allele showed reduced transcription in HeLa cells and primary rat adipocytes. HSL mRNA levels were significantly higher in subcutaneous compared to visceral fat from obese subjects. CONCLUSION: The HSL C-60G polymorphism is associated with increased waist circumference in non-obese subjects.

Department/s

  • Genomics, Diabetes and Endocrinology
  • Diabetes - Epigenetics
  • Molecular Endocrinology
  • Diabetes - Clinical Obesity

Publishing year

2006

Language

English

Pages

1442-1448

Publication/Series

International Journal of Obesity

Volume

30

Issue

9

Document type

Journal article

Publisher

Nature Publishing Group

Topic

  • Nutrition and Dietetics

Keywords

  • transmission
  • case-control association study
  • hormone-sensitive lipase
  • disequilibrium test
  • adipose tissue

Status

Published

Research group

  • Genomics, Diabetes and Endocrinology
  • Diabetes - Epigenetics
  • Molecular Endocrinology
  • Diabetes - Clinical Obesity

ISBN/ISSN/Other

  • ISSN: 1476-5497