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Letter to the Editor| Volume 68, ISSUE 4, P858-860, April 2018

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The PNPLA3 SNP rs738409:G allele is associated with increased liver disease-associated mortality but reduced overall mortality in a population-based cohort

Published:December 11, 2017DOI:https://doi.org/10.1016/j.jhep.2017.11.038
The PNPLA3 SNP rs738409:G allele is associated with increased liver disease-associated mortality but reduced overall mortality in a population-based cohort
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      In a recent issue of the Journal, Atkinson and co-workers reported that a variant in the gene patatin-like phospholipase domain-containing 3 (PNPLA3) not only affects liver disease susceptibility but also mortality following episodes of severe alcoholic hepatitis.
      • Atkinson S.R.
      • Way M.J.
      • McQuillin A.
      • Morgan M.Y.
      • Thursz M.R.
      Homozygosity for rs738409: G in PNPLA3 is associated with increased mortality following an episode of severe alcoholic hepatitis.
      J Hepatol. 2017; 67: 120-127
      Individuals carrying the rs738409C>G (I148M) single nucleotide polymorphism (SNP) of PNPLA3 have previously been reported to accumulate lipids in the liver, to have a higher prevalence of liver disease
      • Stickel F.
      • Buch S.
      • Lau K.
      • Meyer zu Schwabedissen H.
      • Berg T.
      • Ridinger M.
      • et al.
      Genetic variation in the PNPLA3 gene is associated with alcoholic liver injury in caucasians.
      Hepatology. 2011; 53: 86-95
      and to be at an increased risk of developing steatohepatitis and cirrhosis.
      • Buch S.
      • Stickel F.
      • Trepo E.
      • Way M.
      • Herrmann A.
      • Nischalke H.D.
      • et al.
      A genome-wide association study confirms PNPLA3 and identifies TM6SF2 and MBOAT7 as risk loci for alcohol-related cirrhosis.
      Nat Genet. 2015; 47: 1443-1448
      There is also a higher frequency of hospital admissions.
      • Kopp J.
      • Flessa S.
      • Lieb W.
      • Markus M.R.P.
      • Teumer A.
      • Homuth G.
      • et al.
      Association of PNPLA3 rs738409 and TM6SF2 rs58542926 with health services utilization in a population-based study.
      BMC Health Serv Res. 2016; 16: 41
      Non-alcoholic fatty liver disease (NAFLD), in itself, has been reported to be associated with a higher risk for cardiovascular mortality. There is still a debate whether the rs738409:G variant is also linked to metabolic syndrome.
      • Del Ben M.
      • Polimeni L.
      • Brancorsini M.
      • Di Costanzo A.
      • D'Erasmo L.
      • Baratta F.
      • et al.
      Non-alcoholic fatty liver disease, metabolic syndrome and patatin-like phospholipase domain-containing protein3 gene variants.
      Eur J Intern Med. 2014; 25: 566-570
      , 
      • Petit J.M.
      • Guiu B.
      • Masson D.
      • Duvillard L.
      • Jooste V.
      • Buffier P.
      • et al.
      Specifically PNPLA3-mediated accumulation of liver fat in obese patients with type 2 diabetes.
      J Clin Endocrinol Metab. 2010; 95: E430-436
      To address these competing negative and potentially beneficial associations we investigated the association of rs738409:G with all-cause and some specific disease-associated mortality in a population-based cohort.

      Keywords

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      References

        • Atkinson S.R.
        • Way M.J.
        • McQuillin A.
        • Morgan M.Y.
        • Thursz M.R.
        Homozygosity for rs738409: G in PNPLA3 is associated with increased mortality following an episode of severe alcoholic hepatitis.
        J Hepatol. 2017; 67: 120-127
        View in Article
        • Stickel F.
        • Buch S.
        • Lau K.
        • Meyer zu Schwabedissen H.
        • Berg T.
        • Ridinger M.
        • et al.
        Genetic variation in the PNPLA3 gene is associated with alcoholic liver injury in caucasians.
        Hepatology. 2011; 53: 86-95
        View in Article
        • Buch S.
        • Stickel F.
        • Trepo E.
        • Way M.
        • Herrmann A.
        • Nischalke H.D.
        • et al.
        A genome-wide association study confirms PNPLA3 and identifies TM6SF2 and MBOAT7 as risk loci for alcohol-related cirrhosis.
        Nat Genet. 2015; 47: 1443-1448
        View in Article
        • Kopp J.
        • Flessa S.
        • Lieb W.
        • Markus M.R.P.
        • Teumer A.
        • Homuth G.
        • et al.
        Association of PNPLA3 rs738409 and TM6SF2 rs58542926 with health services utilization in a population-based study.
        BMC Health Serv Res. 2016; 16: 41
        View in Article
        • Del Ben M.
        • Polimeni L.
        • Brancorsini M.
        • Di Costanzo A.
        • D'Erasmo L.
        • Baratta F.
        • et al.
        Non-alcoholic fatty liver disease, metabolic syndrome and patatin-like phospholipase domain-containing protein3 gene variants.
        Eur J Intern Med. 2014; 25: 566-570
        View in Article
        • Petit J.M.
        • Guiu B.
        • Masson D.
        • Duvillard L.
        • Jooste V.
        • Buffier P.
        • et al.
        Specifically PNPLA3-mediated accumulation of liver fat in obese patients with type 2 diabetes.
        J Clin Endocrinol Metab. 2010; 95: E430-436
        View in Article
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      Article info

      Publication history

      Published online: December 11, 2017

      Identification

      DOI: https://doi.org/10.1016/j.jhep.2017.11.038

      Copyright

      © 2017 European Association for the Study of the Liver. Published by Elsevier B.V. All rights reserved.

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