PNPLA3 I148M Polymorphism, Clinical Presentation, and Survival in Patients with Hepatocellular Carcinoma

PLoS ONE

Volumn 8, Issue 10, 2013, Pages

  Valenti, Luca ^a,b   Motta, Benedetta Maria ^a   Soardo, Giorgio ^c   Iavarone, Massimo ^b   Donati, Benedetta ^a   Sangiovanni, Angelo ^b   Carnelutti, Alessia ^c   Dongiovanni, Paola ^a   Rametta, Raffaela ^a   Bertelli, Cristina ^b   Facchetti, Floriana ^b   Colombo, Massimo ^a,b   Fargion, Silvia ^a,b   Fracanzani, Anna Ludovica ^a,b  

^a UNIVERSITY OF MILAN   (Italy)

^b NATIONAL CANCER INSTITUTE   (Italy)

^c UNIVERSITY OF UDINE   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN VARIANT;

ADULT; AGE DISTRIBUTION; ALCOHOL LIVER DISEASE; ALLELE; ARTICLE; CANCER GRADING; CANCER PATIENT; CANCER RISK; CANCER SURVIVAL; CLINICAL FEATURE; CONTROLLED STUDY; DISEASE DURATION; DISEASE SEVERITY; DNA POLYMORPHISM; FEMALE; FOLLOW UP; GENE; HOMOZYGOSITY; HUMAN; ITALY; LIVER CELL CARCINOMA; LIVER CIRRHOSIS; MAJOR CLINICAL STUDY; MALE; NONALCOHOLIC FATTY LIVER; NUCLEIC ACID BASE SUBSTITUTION; PATATIN LIKE PHOSPHOLIPASE DOMAIN CONTAINING 3 GENE; PATIENT REFERRAL; PREDICTION; PROPORTIONAL HAZARDS MODEL; RISK ASSESSMENT; SURVIVAL TIME; TERTIARY HEALTH CARE;

AGED; CARCINOMA, HEPATOCELLULAR; CASE-CONTROL STUDIES; DEMOGRAPHY; FATTY LIVER; FEMALE; FOLLOW-UP STUDIES; GENE FREQUENCY; HOMOZYGOTE; HUMANS; KAPLAN-MEIER ESTIMATE; LIPASE; LIVER CIRRHOSIS; LIVER NEOPLASMS; MALE; MEMBRANE PROTEINS; MIDDLE AGED; MULTIVARIATE ANALYSIS; POLYMORPHISM, SINGLE NUCLEOTIDE; PROPORTIONAL HAZARDS MODELS;

EID: 84885402417     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0075982     Document Type: Article

References (35)

1. EASL-EORTC clinical practice guidelines: management of hepatocellular carcinoma. J Hepatol 56: 908-943.
2. Nahon P, Zucman-Rossi J, (2012) Single nucleotide polymorphisms and risk of hepatocellular carcinoma in cirrhosis. J Hepatol 57: 663-674.
3. Valenti L, (2012) PNPLA3 Ile148Met variant and hepatocellular carcinoma: A matter of fat. Dig Liver Dis 44: 974-975.
4. Valenti L, Rumi M, Galmozzi E, Aghemo A, Del Menico B, et al. (2011) Patatin-Like phospholipase domain-containing 3 I148M polymorphism, steatosis, and liver damage in chronic hepatitis C. Hepatology 53: 791-799.
5. Trepo E, Guyot E, Ganne-Carrie N, Degre D, Gustot T, et al. (2012) PNPLA3 (rs738409 C>G) is a common risk variant associated with hepatocellular carcinoma in alcoholic cirrhosis. Hepatology 55: 1307-1308.
6. Nischalke HD, Berger C, Luda C, Berg T, Muller T, et al. (2012) 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: e27087.
7. Burza MA, Pirazzi C, Maglio C, Sjohol K, Mancina RM, et al. (2012) PNPLA3 I148M (rs738409) genetic variant is associated with hepatocellular carcinoma in obese individuals. Dig Liver Dis 44: 1037-1041.
8. Guyot E, Sutton A, Rufat P, Laguillier C, Mansouri A, et al. (2012) PNPLA3 rs738409, hepatocellular carcinoma occurrence and risk model prediction in patients with cirrhosis. J Hepatol: in press.
9. Takeuchi Y, Ikeda F, Moritou Y, Hagihara H, Yasunaka T, et al. (2012) The impact of patatin-like phospholipase domain-containing protein 3 polymorphism on hepatocellular carcinoma prognosis. J Gastroenterol.
10. Falleti E, Fabris C, Cmet S, Cussigh A, Bitetto D, et al. (2012) PNPLA3 rs738409C/G polymorphism in cirrhosis: relationship with the aetiology of liver disease and hepatocellular carcinoma occurrence. Liver Int 31: 1137-1143.
11. Romeo S, Kozlitina J, Xing C, Pertsemlidis A, Cox D, et al. (2008) Genetic variation in PNPLA3 confers susceptibility to nonalcoholic fatty liver disease. Nat Genet 40: 1461-1465.
12. Yuan X, Waterworth D, Perry JR, Lim N, Song K, et al. (2008) Population-based genome-wide association studies reveal six loci influencing plasma levels of liver enzymes. Am J Hum Genet 83: 520-528.
13. Wagenknecht LE, Palmer ND, Bowden DW, Rotter JI, Norris JM, et al. (2011) Association of PNPLA3 with non-alcoholic fatty liver disease in a minority cohort: the Insulin Resistance Atherosclerosis Family Study. Liver Int 31: 412-416.
14. Valenti L, Al-Serri A, Daly AK, Galmozzi E, Rametta R, et al. (2010) Homozygosity for the PNPLA3/ adiponutrin I148M polymorphism influences liver fibrosis in patients with nonalcoholic fatty liver disease. Hepatology 51: 1209-1217.
15. Sookoian S, Pirola CJ, (2011) Meta-analysis of the influence of I148M variant of patatin-like phospholipase domain containing 3 gene (PNPLA3) on the susceptibility and histological severity of nonalcoholic fatty liver disease. Hepatology 53: 1883-1894.
16. Stickel F, Buch S, Lau K, Zu Schwabedissen HM, Berg T, et al. (2011) Genetic variation in the PNPLA3 gene is associated with alcoholic liver injury in caucasians. Hepatology 53: 86-95.
17. Tian C, Stokowski RP, Kershenobich D, Ballinger DG, Hinds DA, (2009) Variant in PNPLA3 is associated with alcoholic liver disease. Nat Genet 42: 21-23.
18. Trepo E, Pradat P, Potthoff A, Momozawa Y, Quertinmont E, et al. (2011) Impact of PNPLA3 (rs738409 C>G) polymorphism on fibrosis progression and steatosis in chronic hepatitis C. Hepatology 54: 60-69.
19. Valenti L, Maggioni P, Piperno A, Rametta R, Pelucchi S, et al. (2012) PNPLA3 I148M polymorphism, steatosis, and liver damage in hereditary hemochromatosis World J Gastroenterol. 18: 2813-2820.
20. Vigano M, Valenti L, Lampertico P, Facchetti F, Motta BM, et al. (2013) PNPLA3 I148M affects liver steatosis in patients with chronic hepatitis B. Hepatology.
21. Valenti L, Colombo M, Fargion S, (2011) PNPLA3 genotype and hepatocellular carcinoma in chronic hepatitis C. Hepatology 53: 1777.
22. Valenti L, Motta BM, Soardo G, Bertelli C, Sangiovanni A, et al. (2012) I148M PNPLA3 polymorphism is associated with clinical features in patients with hepatocellular carcinoma. J Hepatol 56: S129.
23. Salomao M, Yu WM, Brown RS Jr, Emond JC, Lefkowitch JH, (2010) Steatohepatitic hepatocellular carcinoma (SH-HCC): a distinctive histological variant of HCC in hepatitis C virus-related cirrhosis with associated NAFLD/NASH. Am J Surg Pathol 34: 1630-1636.
24. Baffy G, Brunt EM, Caldwell SH, (2012) Hepatocellular carcinoma in non-alcoholic fatty liver disease: An emerging menace. J Hepatol 56: 1384-1391.
25. Valenti L, Dongiovanni P, Ginanni Corradini S, Burza MA, Romeo S (2013) PNPLA3 I148M variant and hepatocellular carcinoma: A common genetic variant for a rare disease. Dig Liver Dis.
26. Bruix J, Sherman M, Llovet JM, Beaugrand M, Lencioni R, et al. (2001) Clinical management of hepatocellular carcinoma. Conclusions of the Barcelona-2000 EASL conference. European Association for the Study of the Liver. J Hepatol 35: 421-430.
27. Bruix J, Sherman M, (2005) Management of hepatocellular carcinoma. Hepatology 42: 1208-1236.
28. Bruix J, Sherman M, (2011) Management of hepatocellular carcinoma: an update. Hepatology 53: 1020-1022.
29. Edmonson HA, Steiner PE, (1954) Primary carcinoma of the liver: a study of 100 cases among 48,900 necropsies. Cancer 7: 462-503.
30. Valenti L, Rametta R, Ruscica M, Dongiovanni P, Steffani L, et al. (2012) The i148m Pnpla3 polymorphism influences serum adiponectin in patients with fatty liver and healthy controls. BMC Gastroenterol 12: 111.
31. Valenti L, Alisi A, Nobili V, (2012) I148M PNPLA3 variant and progressive liver disease: A new paradigm in hepatology. Hepatology 56: 1883-1889.
32. Valenti L, Aghemo A, Stattermayer AF, Maggioni P, De Nicola S, et al. (2012) Implications of PNPLA3 polymorphism in chronic hepatitis C patients receiving peginterferon plus ribavirin. Aliment Pharmacol Ther 35: 1434-1442.
33. Muller T, Buch S, Berg T, Hampe J, Stickel F, (2011) Distinct, alcohol-modulated effects of PNPLA3 genotype on progression of chronic hepatitis C. J Hepatol 55: 732-733.
34. Ginanni Corradini S, Burza MA, Molinaro A, Romeo S, (2011) Patatin-like phospholipase domain containing 3 sequence variant and hepatocellular carcinoma. Hepatology 53: 1776.
35. Hassan MM, Kaseb A, Etzel CJ, El-Serag H, Spitz MR, et al. (2013) Genetic variation in the PNPLA3 gene and hepatocellular carcinoma in USA: Risk and prognosis prediction. Mol Carcinog.