H Mangge1,2, B G Baumgartner3, S Zelzer1, F Prüller1, W J Schnedl4, E Z Reininghaus5, J Haybaeck6, C Lackner6, R Stauber7, E Aigner8,9, D Weghuber10,9. 1. Clinical Institute of Medical and Chemical Laboratory Diagnostics, Medical University of Graz, Graz, Austria. 2. BioTechMed-Graz, Graz, Austria. 3. Department of Internal Medicine, Metabolic Diseases and Medical Molecular Biology, Paracelsus Private Medical University, Salzburg, Austria. 4. General Practice for Internal Medicine, Bruck an der Mur, Austria. 5. Department of Psychiatry, Medical University of Graz, Graz, Austria. 6. Department of Pathology, Medical University of Graz, Graz, Austria. 7. Department of Internal Medicine, Medical University of Graz, Graz, Austria. 8. First Department of Medicine, Paracelsus Medical University, Salzburg, Austria. 9. Obesity Research Unit, Paracelsus Medical University, Salzburg, Austria. 10. Department of Pediatrics, Paracelsus Medical University, Salzburg, Austria.
Abstract
BACKGROUND: Obesity is associated with non-alcoholic fatty liver disease (NAFLD), and the patatin-like phospholipase 3 (PNPLA3) rs738409 (Ile148Met, C>G) gene polymorphism is one of the most important genetic determinants of NAFLD. Carriers have been reported to better respond to lifestyle modification. AIM: To investigate the effect of rs738409 on overweight/obese adolescents and adults with and without metabolic syndrome (MetS). METHODS: Two hundred and eighty-eight overweight/obese and 209 normal weight participants of the STYJOBS/EDECTA cohort (NCT00482924) were analysed for PNPLA3 genotypes. RESULTS: Compared to overweight/obese without MetS, in overweight/obese study participants with MetS, the presence of the G allele (148Met) was significantly higher (CC: 5.0% vs. 9.2%, Spearman's correlation, 0.12; P = 0.038). Persons with CG (heterozygote for the risk allele) and with GG (homozygote for the risk allele) genotypes showed significantly higher ALT levels than those with CC genotypes. Even young individuals aged below 20 years had significantly increased ALT levels if they were homozygote with the G allele. CONCLUSIONS: The PNPLA3 rs738409 polymorphism is associated already in youths with increased ALT, and is more frequent in obese with MetS of all ages. Hence, overweight/obese rs738409 carriers should be identified early in life and treated with a rigorous life style intervention.
BACKGROUND: Obesity is associated with non-alcoholic fatty liver disease (NAFLD), and the patatin-like phospholipase 3 (PNPLA3) rs738409 (Ile148Met, C>G) gene polymorphism is one of the most important genetic determinants of NAFLD. Carriers have been reported to better respond to lifestyle modification. AIM: To investigate the effect of rs738409 on overweight/obese adolescents and adults with and without metabolic syndrome (MetS). METHODS: Two hundred and eighty-eight overweight/obese and 209 normal weight participants of the STYJOBS/EDECTA cohort (NCT00482924) were analysed for PNPLA3 genotypes. RESULTS: Compared to overweight/obese without MetS, in overweight/obese study participants with MetS, the presence of the G allele (148Met) was significantly higher (CC: 5.0% vs. 9.2%, Spearman's correlation, 0.12; P = 0.038). Persons with CG (heterozygote for the risk allele) and with GG (homozygote for the risk allele) genotypes showed significantly higher ALT levels than those with CC genotypes. Even young individuals aged below 20 years had significantly increased ALT levels if they were homozygote with the G allele. CONCLUSIONS: The PNPLA3rs738409 polymorphism is associated already in youths with increased ALT, and is more frequent in obese with MetS of all ages. Hence, overweight/obesers738409 carriers should be identified early in life and treated with a rigorous life style intervention.
Authors: Alexandra Feldman; Sebastian K Eder; Thomas K Felder; Lyudmyla Kedenko; Bernhard Paulweber; Andreas Stadlmayr; Ursula Huber-Schönauer; David Niederseer; Felix Stickel; Simon Auer; Elisabeth Haschke-Becher; Wolfgang Patsch; Christian Datz; Elmar Aigner Journal: Am J Gastroenterol Date: 2016-08-16 Impact factor: 10.864
Authors: Farah D R Al-Baiaty; Aziana Ismail; Zarina Abdul Latiff; Khairul Najmi Muhammad Nawawi; Raja Affendi Raja Ali; Norfilza Mohd Mokhtar Journal: Front Pediatr Date: 2021-07-08 Impact factor: 3.418