A common variant in the adiponutrin gene influences liver enzyme values

Barbara Kollerits, Stefan Coassin, Stefan Kiechl, Steven C. Hunt, Bernhard Paulweber, Johann Willeit, Anita Brandstätter, Claudia Lamina, Ted D. Adams, Florian Kronenberg

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Background: Two recent genome-wide association studies identified the liver expressed transmembrane protein adiponutrin to be associated with liver related phenotypes such as non-alcoholic fatty liver disease and liver function enzymes. These associations were not uniformly reported for various ethnicities. The aim of this study was to investigate a common non-synonymous variant within adiponutrin (rs738409, exon 3) with parameters of liver function in three independent West Eurasian study populations including a total of 4290 participants. Methods: The study was performed in (1) the population based Bruneck Study (n=783), (2) the Salzburg Atherosclerosis Prevention Program in Subjects at High Individual Risk Study from Austria based on a healthy working population (n=1705), and the Utah Obesity CaseeControl Study including a group of 1019 severely obese individuals (average body mass index 46.0 kg/m 2) and 783 controls from the same geographical region of Utah. Liver enzymes measured were alanine aminotransferase (ALT), aspartate aminotransferase (AST) and γ-glutamyl transferase (GGT). Results: A strong recessive association of this polymorphism was found with age and gender adjusted ALT and AST concentrations: being homozygous for the minor allele resulted in a highly significant increase of ALT concentration of 3.53 U/l (p=1.86310 9) and of AST concentration of 2.07 U/l (p=9.58310 6), respectively. The associations were consistently found in all three study populations. Conclusion: The highly significant associations of this transversion polymorphism within the adiponutrin gene with increased ALT and AST concentrations support a role for adiponutrin as a susceptibility gene for hepatic dysfunction.

Original languageEnglish
Pages (from-to)116-119
Number of pages4
JournalJournal of medical genetics
Issue number2
Publication statusPublished - 1 Feb 2010


ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Kollerits, B., Coassin, S., Kiechl, S., Hunt, S. C., Paulweber, B., Willeit, J., Brandstätter, A., Lamina, C., Adams, T. D., & Kronenberg, F. (2010). A common variant in the adiponutrin gene influences liver enzyme values. Journal of medical genetics, 47(2), 116-119. https://doi.org/10.1136/jmg.2009.066597