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A common variant in PNPLA3, which encodes adiponutrin, is associated with liver fat content in humans

In English

Författare

  • A. Kotronen
  • L. E. Johansson
  • L. M. Johansson
  • C. Roos
  • J. Westerbacka
  • A. Hamsten
  • R. Bergholm
  • P. Arkkila
  • J. Arola
  • T. Kiviluoto
  • R. M. Fisher
  • E. Ehrenborg
  • Marju Orho-Melander
  • Martin Ridderstråle
  • Leif Groop
  • H. Yki-Jarvinen
Visa allt

Summary, in English

It has recently been suggested that the rs738409 G allele in PNPLA3, which encodes adiponutrin, is strongly associated with increased liver fat content in three different ethnic groups. The aims of the present study were as follows: (1) to try to replicate these findings in European individuals with quantitative measures of hepatic fat content; (2) to study whether the polymorphism influences hepatic and adipose tissue insulin sensitivity; and (3) to investigate whether PNPLA3 expression is altered in the human fatty liver. We genotyped 291 Finnish individuals in whom liver fat had been measured using proton magnetic resonance spectroscopy. Hepatic PNPLA3 expression was measured in 32 participants. Hepatic and adipose tissue insulin sensitivities were measured using a euglycaemic-hyperinsulinaemic (insulin infusion 0.3 mU kg(-1) min(-1)) clamp technique combined with infusion of [3-H-3]glucose in 109 participants. The rs738409 G allele in PNPLA3 was associated with increased quantitative measures of liver fat content (p = 0.011) and serum aspartate aminotransferase concentrations (p = 0.002) independently of age, sex and BMI. Fasting serum insulin and hepatic and adipose tissue insulin sensitivity were related to liver fat content independently of genotype status. PNPLA3 mRNA expression in the liver was positively related to obesity (r = 0.62, p < 0.0001) and to liver fat content (r = 0.58, p = 0.025) in participants who were not morbidly obese (BMI < 40 kg/m(2)). A common variant in PNPLA3 increases the risk of hepatic steatosis in humans.

Avdelning/ar

Publiceringsår

2009

Språk

Engelska

Sidor

1056-1060

Publikation/Tidskrift/Serie

Diabetologia

Volym

52

Issue

6

Dokumenttyp

Artikel i tidskrift

Förlag

Springer

Ämne

  • Endocrinology and Diabetes

Nyckelord

  • Non-alcoholic fatty liver
  • disease
  • rs738409
  • Liver enzymes
  • Hepatic insulin sensitivity
  • Gene expression
  • Adiponutrin
  • Adipose tissue insulin sensitivity

Status

Published

Forskningsgrupp

  • Genomics, Diabetes and Endocrinology
  • Diabetes - Clinical Obesity

ISBN/ISSN/Övrigt

  • ISSN: 1432-0428