Carriage of the PNPLA3 rs738409 C >g polymorphism confers an increased risk of non-alcoholic fatty liver disease associated hepatocellular carcinoma

Journal of Hepatology

Volumn 61, Issue 1, 2014, Pages 75-81

  Liu, Y L ^a   Patman, G L ^a   Leathart, J B S ^a   Piguet, A C ^b   Burt, A D ^a   Dufour, J F ^b   Day, C P ^a   Daly, A K ^a   Reeves, H L ^a   Anstee, Q M ^a  

^a NEWCASTLE UNIVERSITY   (United Kingdom)

^b UNIVERSITY OF BERN   (Switzerland)

Author keywords

Gene; HCC; Hepatocellular carcinoma; NAFLD; NASH; PNPLA3; Steatohepatitis

Indexed keywords

AGE; AGED; ARTICLE; BODY MASS; CANCER GRADING; CASE CONTROL STUDY; CONTROLLED STUDY; FEMALE; GENE DOSAGE; GENE FREQUENCY; GENOTYPE; HOMOZYGOTE; HUMAN; HUMAN TISSUE; LIVER BIOPSY; LIVER CELL CARCINOMA; LIVER CIRRHOSIS; MAJOR CLINICAL STUDY; MALE; NON INSULIN DEPENDENT DIABETES MELLITUS; NONALCOHOLIC FATTY LIVER; OBESITY; PATHOGENESIS; PRIORITY JOURNAL; RISK FACTOR; SINGLE NUCLEOTIDE POLYMORPHISM; ADULT; CARCINOMA, HEPATOCELLULAR; CAUCASIAN; COHORT ANALYSIS; COMPLICATION; DISEASE COURSE; GENETIC ASSOCIATION; GENETICS; LIVER NEOPLASMS; MIDDLE AGED; PATHOLOGY;

ADIPONUTRIN, HUMAN; MEMBRANE PROTEIN; TRIACYLGLYCEROL LIPASE;

ADULT; AGED; CARCINOMA, HEPATOCELLULAR; CASE-CONTROL STUDIES; COHORT STUDIES; DISEASE PROGRESSION; EUROPEAN CONTINENTAL ANCESTRY GROUP; FEMALE; GENE FREQUENCY; GENETIC ASSOCIATION STUDIES; HOMOZYGOTE; HUMANS; LIPASE; LIVER NEOPLASMS; MALE; MEMBRANE PROTEINS; MIDDLE AGED; NON-ALCOHOLIC FATTY LIVER DISEASE; POLYMORPHISM, SINGLE NUCLEOTIDE; RISK FACTORS;

EID: 84902688337     PISSN: 01688278     EISSN: 16000641     Source Type: Journal    
DOI: 10.1016/j.jhep.2014.02.030     Document Type: Article

References (44)

1. Q.M. Anstee, G. Targher, and C.P. Day Progression of NAFLD to diabetes mellitus, cardiovascular disease or cirrhosis Nat Rev Gastroenterol Hepatol 10 2013 330 344
2. V. Ratziu, S. Bellentani, H. Cortez-Pinto, C. Day, and G. Marchesini A position statement on NAFLD/NASH based on the EASL 2009 special conference J Hepatol 53 2010 372 384
3. Q.M. Anstee, S. McPherson, and C.P. Day How big a problem is non-alcoholic fatty liver disease? BMJ 343 2011 d3897
4. H.B. El-Serag, and K.L. Rudolph Hepatocellular carcinoma: epidemiology and molecular carcinogenesis Gastroenterology 132 2007 2557 2576
5. H. Nordenstedt, D.L. White, and H.B. El-Serag The changing pattern of epidemiology in hepatocellular carcinoma Dig Liver Dis 42 2010 S206 S214
6. EASL-EORTC clinical practice guidelines Management of hepatocellular carcinoma J Hepatol 56 2012 908 943
7. J. Dyson, B. Jaques, D. Chattopadyhay, R. Lochan, J. Graham, and D. Das et al. Hepatocellular Cancer - the impact of obesity, type 2 diabetes and a multidisciplinary team J Hepatol 60 2014 110 117
8. D.M. Parkin The global health burden of infection-associated cancers in the year 2002 Int J Cancer 118 2006 3030 3044
9. G. Baffy, E.M. Brunt, and S.H. Caldwell Hepatocellular carcinoma in non-alcoholic fatty liver disease: an emerging menace J Hepatol 56 2012 1384 1391
10. B.Q. Starley, C.J. Calcagno, and S.A. Harrison Nonalcoholic fatty liver disease and hepatocellular carcinoma: a weighty connection Hepatology 51 2010 1820 1832
11. G. Guzman, E.M. Brunt, L.M. Petrovic, G. Chejfec, T.J. Layden, and S.J. Cotler Does nonalcoholic fatty liver disease predispose patients to hepatocellular carcinoma in the absence of cirrhosis? Arch Pathol Lab Med 132 2008 1761 1766
12. E. Hashimoto, S. Yatsuji, M. Tobari, M. Taniai, N. Torii, and K. Tokushige et al. Hepatocellular carcinoma in patients with nonalcoholic steatohepatitis J Gastroenterol 44 2009 89 95
13. M.S. Ascha, I.A. Hanouneh, R. Lopez, T.A. Tamimi, A.F. Feldstein, and N.N. Zein The incidence and risk factors of hepatocellular carcinoma in patients with nonalcoholic steatohepatitis Hepatology 51 2010 1972 1978
14. A. Sanyal, A. Poklepovic, E. Moyneur, and V. Barghout Population-based risk factors and resource utilization for HCC: US perspective Curr Med Res Opin 26 2010 2183 2191
15. Q.M. Anstee, and C.P. Day The genetics of NAFLD Nat Rev Gastroenterol Hepatol 10 2013 645 655
16. L. Valenti, P. Dongiovanni, S. Ginanni Corradini, M.A. Burza, and S. Romeo PNPLA3 I148M variant and hepatocellular carcinoma: a common genetic variant for a rare disease Dig Liver Dis 45 2013 619 624
17. S. Romeo, J. Kozlitina, C. Xing, A. Pertsemlidis, D. Cox, and L.A. Pennacchio et al. Genetic variation in PNPLA3 confers susceptibility to nonalcoholic fatty liver disease Nat Genet 40 2008 1461 1465
18. L. Valenti, A. Al-Serri, A.K. Daly, E. Galmozzi, R. Rametta, and P. Dongiovanni et al. Homozygosity for the patatin-like phospholipase-3/adiponutrin I148M polymorphism influences liver fibrosis in patients with nonalcoholic fatty liver disease Hepatology 51 2010 1209 1217
19. E. Guyot, A. Sutton, P. Rufat, C. Laguillier, A. Mansouri, and R. Moreau et al. PNPLA3 rs738409, hepatocellular carcinoma occurrence and risk model prediction in patients with cirrhosis J Hepatol 58 2013 312 318
20. H.D. Nischalke, C. Berger, C. Luda, T. Berg, T. Muller, and F. Grunhage et al. The PNPLA3 rs738409 148M/M genotype is a risk factor for liver cancer in alcoholic cirrhosis but shows no or weak association in hepatitis C cirrhosis PLoS One 6 2011 e27087
21. E. Trepo, E. Guyot, N. Ganne-Carrie, D. Degre, T. Gustot, and D. Franchimont et al. PNPLA3 (rs738409 C >G) is a common risk variant associated with hepatocellular carcinoma in alcoholic cirrhosis Hepatology 55 2012 1307 1308
22. E. Trepo, P. Nahon, G. Bontempi, L. Valenti, E. Falleti, and H.D. Nischalke et al. Association between the PNPLA3 (rs738409 C >G) variant and hepatocellular carcinoma: evidence from a meta-analysis of individual participant data Hepatology 2014 10.1002/hep.26767
23. L. Valenti, M. Rumi, E. Galmozzi, A. Aghemo, B. Del Menico, and S. De Nicola et al. Patatin-like phospholipase domain-containing 3 I148M polymorphism, steatosis, and liver damage in chronic hepatitis C Hepatology 53 2011 791 799
24. E. Falleti, C. Fabris, S. Cmet, A. Cussigh, D. Bitetto, and E. Fontanini et al. PNPLA3 rs738409C/G polymorphism in cirrhosis: relationship with the aetiology of liver disease and hepatocellular carcinoma occurrence Liver Int 31 2011 1137 1143
25. M.A. Burza, C. Pirazzi, C. Maglio, K. Sjoholm, R.M. Mancina, and P.A. Svensson et al. PNPLA3 I148M (rs738409) genetic variant is associated with hepatocellular carcinoma in obese individuals Dig Liver Dis 44 2012 1037 1041
26. M.M. Hassan, A. Kaseb, C.J. Etzel, H. El-Serag, M.R. Spitz, and P. Chang et al. Genetic variation in the PNPLA3 gene and hepatocellular carcinoma in USA: Risk and prognosis prediction Mol Carcinog 52(Suppl. 1) 2013 E139 E147
27. D.E. Kleiner, E.M. Brunt, M. Van Natta, C. Behling, M.J. Contos, and O.W. Cummings et al. Design and validation of a histological scoring system for nonalcoholic fatty liver disease Hepatology 41 2005 1313 1321
28. H.A. Edmondson, and P.E. Steiner Primary carcinoma of the liver: a study of 100 cases among 48,900 necropsies Cancer 7 1954 462 503
29. A.K. Daly, K.S. Fairbrother, O.A. Andreassen, S.J. London, J.R. Idle, and V.M. Steen Characterization and PCR-based detection of two different hybrid CYP2D7P/CYP2D6 alleles associated with the poor metabolizer phenotype Pharmacogenetics 6 1996 319 328
30. S. Purcell, B. Neale, K. Todd-Brown, L. Thomas, M.A. Ferreira, and D. Bender et al. PLINK: a tool set for whole-genome association and population-based linkage analyses Am J Hum Genet 81 2007 559 575
31. S. Sookoian, G.O. Castano, A.L. Burgueno, T.F. Gianotti, M.S. Rosselli, and C.J. Pirola A nonsynonymous gene variant in the adiponutrin gene is associated with nonalcoholic fatty liver disease severity J Lipid Res 50 2009 2111 2116
32. Y. Rotman, C. Koh, J.M. Zmuda, D.E. Kleiner, and T.J. Liang The association of genetic variability in patatin-like phospholipase domain-containing protein 3 (PNPLA3) with histological severity of nonalcoholic fatty liver disease Hepatology 52 2010 894 903
33. International HapMap Consortium The international HapMap project Nature 426 2003 789 796
34. H.B. El-Serag, T. Tran, and J.E. Everhart Diabetes increases the risk of chronic liver disease and hepatocellular carcinoma Gastroenterology 126 2004 460 468
35. M.A. Burza, A. Molinaro, M.L. Attilia, C. Rotondo, F. Attilia, and M. Ceccanti et al. PNPLA3 I148M (rs738409) genetic variant and age at onset of at-risk alcohol consumption are independent risk factors for alcoholic cirrhosis Liver Int 34 2014 514 520
36. S. Romeo, I. Huang-Doran, M.G. Baroni, and A. Kotronen Unravelling the pathogenesis of fatty liver disease: patatin-like phospholipase domain-containing 3 protein Curr Opin Lipidol 21 2010 247 252
37. R. Zimmermann, J.G. Strauss, G. Haemmerle, G. Schoiswohl, R. Birner-Gruenberger, and M. Riederer et al. Fat mobilization in adipose tissue is promoted by adipose triglyceride lipase Science 306 2004 1383 1386
38. A. Al-Serri, Q.M. Anstee, L. Valenti, V. Nobili, J.B. Leathart, and P. Dongiovanni et al. The SOD2 C47T polymorphism influences NAFLD fibrosis severity: evidence from case-control and intra-familial allele association studies J Hepatol 56 2012 448 454
39. G.A. Michelotti, M.V. Machado, and A.M. Diehl NAFLD, NASH and liver cancer Nat Rev Gastroenterol Hepatol 10 2013 656 665
40. A. Lade, L. Noon, and S.L. Friedman Contributions of metabolic dysregulation and inflammation to non-alcoholic steatohepatitis, hepatic fibrosis, and cancer current reviews Oncology 26 2014 100 107
41. S. Sookoian, and C.J. Pirola PNPLA3, the history of an orphan gene of the potato tuber PROTEIN family that found an organ: the Liver Hepatology 2014 10.1002/hep.26895
42. F.P. Sarasin, E. Giostra, and A. Hadengue Cost-effectiveness of screening for detection of small hepatocellular carcinoma in western patients with Child-Pugh class A cirrhosis Am J Med 101 1996 422 434
43. F. Trevisani, V. Santi, A. Gramenzi, M.A. Di Nolfo, P. Del Poggio, and L. Benvegnu et al. Surveillance for early diagnosis of hepatocellular carcinoma: is it effective in intermediate/advanced cirrhosis? Am J Gastroenterol 102 2007 2448 2457 quiz 2458
44. T.A. Manolio Bringing genome-wide association findings into clinical use Nat Rev Genet 14 2013 549 558