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DOI: 10.1055/s-2006-954469
The ATGL gene is associated with free fatty acids, triglycerides and type 2 diabetes
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, twelve polymorphisms identified via sequencing and database search were studied in 2434 individuals of European ancestry from Utah. These polymorphisms and their haplotypes were analyzed in subjects not taking diabetic medication for association with plasma free fatty acids (FFA) as primary analysis, as well as triglycerides and glucose as a secondary analysis (n=1701, 2193 or 2190 respectively). Furthermore, type 2 diabetes (T2DM, n=342 out of 2434) was analyzed as an outcome. FFA concentrations were significantly associated with several 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 T2DM (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 Potenzial role of ATGL in pathways involved in components of the metabolic syndrome.