PNPLA3 rs738409C/G polymorphism in cirrhosis: Relationship with the aetiology of liver disease and hepatocellular carcinoma occurrence

Liver International

Volumn 31, Issue 8, 2011, Pages 1137-1143

  Falleti, Edmondo ^a   Fabris, Carlo ^a   Cmet, Sara ^a   Cussigh, Annarosa ^a   Bitetto, Davide ^a   Fontanini, Elisabetta ^a   Fornasiere, Ezio ^a   Bignulin, Sara ^a   Fumolo, Elisa ^a   Bignulin, Eleonora ^a   Pirisi, Mario ^b   Toniutto, Pierluigi ^a  

^a UNIVERSITY OF UDINE   (Italy)

^b UNIVERSITY OF EASTERN PIEDMONT   (Italy)

Author keywords

Cirrhosis; Gender; Genetic polymorphisms; Hepatocellular carcinoma; PNPLA3

Indexed keywords

PHOSPHOLIPASE; PNPLA3 PROTEIN; UNCLASSIFIED DRUG;

ADULT; ALCOHOL LIVER DISEASE; ARTICLE; CANCER INCIDENCE; CAUCASIAN; CONTROLLED STUDY; DISEASE ASSOCIATION; DNA POLYMORPHISM; ETHNICITY; FEMALE; GENETIC RISK; GENOTYPE; HEPATITIS B VIRUS; HEPATITIS C VIRUS; HETEROZYGOTE; HOMOZYGOTE; HUMAN; LIVER CELL CARCINOMA; LIVER CIRRHOSIS; LIVER DISEASE; LIVER FAILURE; LIVER TRANSPLANTATION; MAJOR CLINICAL STUDY; MALE; NUCLEIC ACID BASE SUBSTITUTION; RESTRICTION FRAGMENT; SINGLE NUCLEOTIDE POLYMORPHISM;

ADULT; AGED; AGED, 80 AND OVER; CARCINOMA, HEPATOCELLULAR; CASE-CONTROL STUDIES; CHI-SQUARE DISTRIBUTION; FATTY LIVER; FEMALE; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; HEPATITIS B; HEPATITIS C; HETEROZYGOTE; HOMOZYGOTE; HUMANS; ITALY; LIPASE; LIVER CIRRHOSIS; LIVER CIRRHOSIS, ALCOHOLIC; LIVER NEOPLASMS; LOGISTIC MODELS; MALE; MEMBRANE PROTEINS; MIDDLE AGED; ODDS RATIO; POLYMORPHISM, SINGLE NUCLEOTIDE; PROGNOSIS; RISK ASSESSMENT; RISK FACTORS; YOUNG ADULT;

EID: 79961186012     PISSN: 14783223     EISSN: 14783231     Source Type: Journal    
DOI: 10.1111/j.1478-3231.2011.02534.x     Document Type: Article

References (38)

1. El-Serag HB, Rudolph KL. Hepatocellular carcinoma: epidemiology and molecular carcinogenesis. Gastroenterology 2007; 132: 2557-76.
2. Llovet JM, Burroughs A, Bruix J. Hepatocellular carcinoma. Lancet 2003; 362: 1907-17.
3. Llovet JM, Beaugrand M. Hepatocellular carcinoma: present status and future prospects. J Hepatol 2003; 38(Suppl. 1): S136-49.
4. Bosch FX, Ribes J, Diaz M, Cleries R. Primary liver cancer: worldwide incidence and trends. Gastroenterology 2004; 127: S5-6.
5. Parikh S, Hyman D. Hepatocellular cancer: a guide for the internist. Am J Med 2007; 120: 194-202.
6. Fattovich G, Stroffolini T, Zagni I, Donato F. Hepatocellular carcinoma in cirrhosis: incidence and risk factors. Gastroenterology 2004; 127: S35-50.
7. James WP. The epidemiology of obesity: the size of the problem. J Intern Med 2008; 263: 336-52.
8. Wolin KY, Carson K, Colditz GA. Obesity and cancer. Oncologist 2010; 15: 556-65.
9. Marchesini G, Bugianesi E, Forlani G, et al. Nonalcoholic fatty liver, steatohepatitis, and the metabolic syndrome. Hepatology 2003; 37: 917-23.
10. Clark JM, Diehl AM. Nonalcoholic fatty liver disease: an underrecognized cause of cryptogenic cirrhosis. JAMA 2003; 289: 3000-4.
11. Pekow JR, Bhan AK, Zheng H, Chung RT. Hepatic steatosis is associated with increased frequency of hepatocellular carcinoma in patients with hepatitis C-related cirrhosis. Cancer 2007; 109: 2490-6.
12. Ascha MS, Hanouneh IA, Lopez R, et al. The incidence and risk factors of hepatocellular carcinoma in patients with nonalcoholic steatohepatitis. Hepatology 2010; 51: 1972-8.
13. Starley BQ, Calcagno CJ, Harrison SA. Nonalcoholic fatty liver disease and hepatocellular carcinoma: a weighty connection. Hepatology 2010; 51: 1820-32.
14. Blonski W, Kotlyar DS, Forde KA. Non-viral causes of hepatocellular carcinoma. World J Gastroenterol 2010; 16: 3603-15.
15. Hui JM, Kench JG, Chitturi S, et al. Long-term outcomes of cirrhosis in nonalcoholic steatohepatitis compared with hepatitis C. Hepatology 2003; 38: 420-7.
16. Falleti E, Fabris C, Toniutto P, et al. Interleukin-6 polymorphisms and gender: relationship with the occurrence of hepatocellular carcinoma in patients with end-stage liver disease. Oncology 2009; 77: 304-13.
17. Yang Y, Luo C, Feng R, Bi S. The TNF-alpha, IL-1B and IL-10 polymorphisms and risk for hepatocellular carcinoma: a meta-analysis. J Cancer Res Clin Oncol 2011; 137: 947-52.
18. Wilson PA, Gardner SD, Lambie NM, Commans SA, Crowther DJ. Characterization of the human patatin-like phospholipase family. J Lipid Res 2006; 47: 1940-9.
19. Huang Y, He S, Li JZ, et al. A feed-forward loop amplifies nutritional regulation of PNPLA3. Proc Natl Acad Sci USA 2010; 107: 7892-7.
20. Kershaw EE, Hamm JK, Verhagen LA, et al. Adipose triglyceride lipase: function, regulation by insulin, and comparison with adiponutrin. Diabetes 2006; 55: 148-57.
21. Romeo S, Kozlitina J, Xing C, et al. Genetic variation in PNPLA3 confers susceptibility to nonalcoholic fatty liver disease. Nat Genet 2008; 40: 1461-5.
22. Rotman Y, Koh C, Zmuda JM, Kleiner DE, Liang TJ. The association of genetic variability in patatin-like phospholipase domain-containing protein 3 (PNPLA3) with histological severity of nonalcoholic fatty liver disease. Hepatology 2010; 52: 894-903.
23. Valenti L, Al-Serri A, Daly AK, et al. Homozygosity for the patatin-like phospholipase-3/adiponutrin I148M polymorphism influences liver fibrosis in patients with nonalcoholic fatty liver disease. Hepatology 2010; 51: 1209-17.
24. Tian C, Stokowski RP, Kershenobich D, Ballinger DG, Hinds DA. Variant in PNPLA3 is associated with alcoholic liver disease. Nat Genet 2010; 42: 21-3.
25. Rydel TJ, Williams JM, Krieger E, et al. The crystal structure, mutagenesis, and activity studies reveal that patatin is a lipid acyl hydrolase with a Ser-Asp catalytic dyad. Biochemistry 2003; 42: 6696-708.
26. Jenkins CM, Mancuso DJ, Yan W, et al. Identification, cloning, expression, and purification of three novel human calcium-independent phospholipase A2 family members possessing triacylglycerol lipase and acylglycerol transacylase activities. J Biol Chem 2004; 279: 48968-75.
27. Liu YM, Moldes M, Bastard JP, et al. Adiponutrin: a new gene regulated by energy balance in human adipose tissue. J Clin Endocrinol Metab 2004; 89: 2684-9.
28. He S, McPhaul C, Li JZ, et al. A sequence variation (I148M) in PNPLA3 associated with nonalcoholic fatty liver disease disrupts triglyceride hydrolysis. J Biol Chem 2010; 285: 6706-15.
29. Browning JD, Cohen JC, Hobbs HH. Patatin-like phospholipase domain-containing 3 and the pathogenesis and progression of pediatric nonalcoholic fatty liver disease. Hepatology 2010; 52: 1189-92.
30. Johansson LE, Lindblad U, Larsson CA, Rastam L, Ridderstrale M. Polymorphisms in the adiponutrin gene are associated with increased insulin secretion and obesity. Eur J Endocrinol 2008; 159: 577-83.
31. Kollerits B, Coassin S, Beckmann ND, et al. Genetic evidence for a role of adiponutrin in the metabolism of apolipoprotein B-containing lipoproteins. Hum Mol Genet 2009; 18: 4669-76.
32. Speliotes EK, Butler JL, Palmer CD, Voight BF, Hirschhorn JN. PNPLA3 variants specifically confer increased risk for histologic nonalcoholic fatty liver disease but not metabolic disease. Hepatology 2010; 52: 904-12.
33. Santoro N, Kursawe R, D'Adamo E, et al. A common variant in the patatin-like phospholipase 3 gene (PNPLA3) is associated with fatty liver disease in obese children and adolescents. Hepatology 2010; 52: 1281-90.
34. Valenti L, Alisi A, Galmozzi E, et al. I148M patatin-like phospholipase domain-containing 3 gene variant and severity of pediatric nonalcoholic fatty liver disease. Hepatology 2010; 52: 1274-80.
35. Kollerits B, Coassin S, Kiechl S, et al. A common variant in the adiponutrin gene influences liver enzyme values. J Med Genet 2010; 47: 116-9.
36. Koutsari C, Lazaridis KN. Emerging genes associated with the progression of nonalcoholic fatty liver disease. Hepatology 2010; 52: 807-10.
37. Sookoian S, Castano GO, Burgueno AL, et al. A nonsynonymous gene variant in the adiponutrin gene is associated with nonalcoholic fatty liver disease severity. J Lipid Res 2009; 50: 2111-6.
38. Kurosaki M, Hosokawa T, Matsunaga K, et al. Hepatic steatosis in chronic hepatitis C is a significant risk factor for developing hepatocellular carcinoma independent of age, sex, obesity, fibrosis stage and response to interferon therapy. Hepatol Res 2010; 40: 870-7.