The ATGL gene is associated with free fatty acids, triglycerides, and type 2 diabetes

Veit Schoenborn, Iris M. Heid, Caren Vollmert, Arno Lingenhel, Ted D. Adams, Paul N. Hopkins, Thomas Illig, Robert Zimmermann, Rudolf Zechner, Steven C. Hunt, Florian Kronenberg

Research output: Contribution to journalArticle

80 Citations (Scopus)


Adipose triglyceride lipase (ATGL) was recently described to predominantly perform the initial step in triglyceride hydrolysis and therefore seems to play a pivotal role in the lipolytic catabolism of stored fat in adipose tissue. In the first study investigating genetic variations within the ATGL gene in humans, 12 polymorphisms identified via sequencing and database search were studied in 2,434 individuals of European ancestry from Utah. These polymorphisms and their haplotypes were analyzed in subjects not taking diabetes medication for association with plasma free fatty acids (FFAs) as primary analysis, as well as triglycerides and glucose as a secondary analysis (n = 1,701, 2,193, or 2,190, respectively). Furthermore, type 2 diabetes (n = 342 of 2,434) was analyzed as an outcome. FFA concentrations were significantly associated with several single nucleotide polymorphisms (SNPs) of ATGL (P values from 0.015 to 0.00003), consistent with additive inheritance. The pattern was similar when considering triglyceride concentrations. Furthermore, two SNPs showed associations with glucose levels (P < 0.00001) and risk of type 2 diabetes (P < 0.05). Haplotype analysis supported and extended the shown SNP association analyses. These results complement previous findings of functional studies in mammals and elucidate a potential role of ATGL in pathways involved in components of the metabolic syndrome.

Original languageEnglish
Pages (from-to)1270-1275
Number of pages6
Issue number5
Publication statusPublished - 15 Aug 2006



  • ATGL, adipose triglyceride lipase
  • FFA, free fatty acid
  • SNP, single nucleotide polymorphism

ASJC Scopus subject areas

  • Internal Medicine
  • Endocrinology, Diabetes and Metabolism

Cite this

Schoenborn, V., Heid, I. M., Vollmert, C., Lingenhel, A., Adams, T. D., Hopkins, P. N., Illig, T., Zimmermann, R., Zechner, R., Hunt, S. C., & Kronenberg, F. (2006). The ATGL gene is associated with free fatty acids, triglycerides, and type 2 diabetes. Diabetes, 55(5), 1270-1275.