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Genetic variation in PNPLA3 but not APOC3 influences liver fat in non-alcoholic fatty liver disease

Hyysalo, Jenni; Stojkovic, Ivana LU ; Kotronen, Anna; Hakkarainen, Antti; Sevastianova, Ksenia; Makkonen, Janne; Lundbom, Nina; Rissanen, Aila; Krauss, Ronald M. and Melander, Olle LU , et al. (2012) In Journal of Gastroenterology and Hepatology 27(5). p.951-956
Abstract
Background and Aim: A recent study in Indian subjects suggested common variants in apolipoprotein C3 (APOC3) (T-455C at rs2854116 and C-482T at rs2854117) to contribute to non-alcoholic fatty liver disease (NAFLD), plasma apoC3 and triglyceride concentrations. Our aim was to determine the contribution of genetic variation in APOC3 on liver fat content and plasma triglyceride and apoC3 concentrations in a larger European cohort. Methods: Atotal of 417 Finnish individuals were genotyped for rs2854116 and rs2854117 in APOC3 and the known rs738409 in patatin-like phospholipase domain-containing protein 3 (PNPLA3) influencing liver fat. Plasma apoC3 concentration was measured enzymatically, and liver fat by proton magnetic resonance... (More)
Background and Aim: A recent study in Indian subjects suggested common variants in apolipoprotein C3 (APOC3) (T-455C at rs2854116 and C-482T at rs2854117) to contribute to non-alcoholic fatty liver disease (NAFLD), plasma apoC3 and triglyceride concentrations. Our aim was to determine the contribution of genetic variation in APOC3 on liver fat content and plasma triglyceride and apoC3 concentrations in a larger European cohort. Methods: Atotal of 417 Finnish individuals were genotyped for rs2854116 and rs2854117 in APOC3 and the known rs738409 in patatin-like phospholipase domain-containing protein 3 (PNPLA3) influencing liver fat. Plasma apoC3 concentration was measured enzymatically, and liver fat by proton magnetic resonance spectroscopy. Results: APOC3 wild-type homozygotes and variant allele (T-455C or C-482T or both) carriers did not differ with regard to liver fat, apoC3 concentrations, triglyceride-, high density lipoprotein-, fasting plasma glucose, insulin-, alanine aminotransferase-and aspartate aminotransferase-concentrations, nor was there a difference in prevalence of NAFLD. In contrast, carriers of the PNPLA3 GG genotype at rs738409 had a 2.7-fold (median 11.3%) higher liver fat than those with the CC (median 4.2%) genotype. The PNPLA3 rs738409 was also an independent predictor of liver fat, together with age, gender, and body mass index. Conclusion: Genetic variants in PNPLA3 but not APOC3 contribute to the variance in liver fat content due to NAFLD. (Less)
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published
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keywords
diabetes mellitus type 2, insulin resistance, metabolic syndrome, non-alcoholic fatty liver disease, proton magnetic resonance, spectroscopy
in
Journal of Gastroenterology and Hepatology
volume
27
issue
5
pages
951 - 956
publisher
Wiley-Blackwell
external identifiers
  • wos:000303039400019
  • scopus:84860246794
ISSN
0815-9319
DOI
10.1111/j.1440-1746.2011.07045.x
language
English
LU publication?
yes
id
0fc69d31-c644-4473-a382-dca36f7328c5 (old id 2563247)
date added to LUP
2012-06-01 08:48:14
date last changed
2017-09-10 04:11:22
@article{0fc69d31-c644-4473-a382-dca36f7328c5,
  abstract     = {Background and Aim: A recent study in Indian subjects suggested common variants in apolipoprotein C3 (APOC3) (T-455C at rs2854116 and C-482T at rs2854117) to contribute to non-alcoholic fatty liver disease (NAFLD), plasma apoC3 and triglyceride concentrations. Our aim was to determine the contribution of genetic variation in APOC3 on liver fat content and plasma triglyceride and apoC3 concentrations in a larger European cohort. Methods: Atotal of 417 Finnish individuals were genotyped for rs2854116 and rs2854117 in APOC3 and the known rs738409 in patatin-like phospholipase domain-containing protein 3 (PNPLA3) influencing liver fat. Plasma apoC3 concentration was measured enzymatically, and liver fat by proton magnetic resonance spectroscopy. Results: APOC3 wild-type homozygotes and variant allele (T-455C or C-482T or both) carriers did not differ with regard to liver fat, apoC3 concentrations, triglyceride-, high density lipoprotein-, fasting plasma glucose, insulin-, alanine aminotransferase-and aspartate aminotransferase-concentrations, nor was there a difference in prevalence of NAFLD. In contrast, carriers of the PNPLA3 GG genotype at rs738409 had a 2.7-fold (median 11.3%) higher liver fat than those with the CC (median 4.2%) genotype. The PNPLA3 rs738409 was also an independent predictor of liver fat, together with age, gender, and body mass index. Conclusion: Genetic variants in PNPLA3 but not APOC3 contribute to the variance in liver fat content due to NAFLD.},
  author       = {Hyysalo, Jenni and Stojkovic, Ivana and Kotronen, Anna and Hakkarainen, Antti and Sevastianova, Ksenia and Makkonen, Janne and Lundbom, Nina and Rissanen, Aila and Krauss, Ronald M. and Melander, Olle and Orho-Melander, Marju and Yki-Jarvinen, Hannele},
  issn         = {0815-9319},
  keyword      = {diabetes mellitus type 2,insulin resistance,metabolic syndrome,non-alcoholic fatty liver disease,proton magnetic resonance,spectroscopy},
  language     = {eng},
  number       = {5},
  pages        = {951--956},
  publisher    = {Wiley-Blackwell},
  series       = {Journal of Gastroenterology and Hepatology},
  title        = {Genetic variation in PNPLA3 but not APOC3 influences liver fat in non-alcoholic fatty liver disease},
  url          = {http://dx.doi.org/10.1111/j.1440-1746.2011.07045.x},
  volume       = {27},
  year         = {2012},
}