PNPLA3 I148M (rs738409) genetic variant is associated with hepatocellular carcinoma in obese individuals

Digestive and Liver Disease

Volumn 44, Issue 12, 2012, Pages 1037-1041

  Burza, Maria Antonella ^a   Pirazzi, Carlo ^a   Maglio, Cristina ^a   Sjöholm, Kajsa ^a   Mancina, Rosellina Margherita ^a,c   Svensson, Per Arne ^a   Jacobson, Peter ^a   Adiels, Martin ^a   Baroni, Marco Giorgio ^b   Borén, Jan ^a   Ginanni Corradini, Stefano ^d   Montalcini, Tiziana ^c   Sjöström, Lars ^a   Carlsson, Lena Mariana Susann ^a   Romeo, Stefano ^a,c  

^a UNIVERSITY OF GOTHENBURG   (Sweden)

^b UNIVERSITY OF CAGLIARI   (Italy)

^c UNIVERSITY MAGNA GRAECIA OF CATANZARO   (Italy)

^d SAPIENZA UNIVERSITY OF ROME   (Italy)

Author keywords

Liver cancer; Obesity; Patatin like phospholipase domain containing 3; Swedish obese subjects study

Indexed keywords

PATATIN LIKE PHOSPHOLIPASE DOMAIN CONTAINING 3; PHOSPHOLIPASE; UNCLASSIFIED DRUG;

ADULT; ALCOHOL ABUSE; ARTICLE; BARIATRIC SURGERY; CANCER INCIDENCE; CONTROLLED STUDY; FEMALE; FOLLOW UP; GENETIC ASSOCIATION; GENETIC RISK; GENETIC VARIABILITY; HEPATITIS; HETEROZYGOTE; HUMAN; LIVER CARCINOGENESIS; LIVER CELL CARCINOMA; MAJOR CLINICAL STUDY; MALE; OBESITY; PRIORITY JOURNAL; PROSPECTIVE STUDY;

ADULT; BARIATRIC SURGERY; CARCINOMA, HEPATOCELLULAR; FEMALE; FOLLOW-UP STUDIES; GENETIC MARKERS; GENOTYPE; HUMANS; INCIDENCE; KAPLAN-MEIER ESTIMATE; LINEAR MODELS; LIPASE; LIVER NEOPLASMS; MALE; MEMBRANE PROTEINS; MIDDLE AGED; OBESITY; PROPORTIONAL HAZARDS MODELS; PROSPECTIVE STUDIES; RISK FACTORS;

EID: 84868304332     PISSN: 15908658     EISSN: 18783562     Source Type: Journal    
DOI: 10.1016/j.dld.2012.05.006     Document Type: Article

References (29)

1. Calle E.E., Rodriguez C., Walker-Thurmond K., Thun M.J. Overweight, obesity, and mortality from cancer in a prospectively studied cohort of U.S. adults. New England Journal of Medicine 2003, 348:1625-1638.
2. El-Serag H.B. Hepatocellular carcinoma. New England Journal of Medicine 2011, 365:1118-1127.
3. Romeo S., Kozlitina J., Xing C., et al. Genetic variation in PNPLA3 confers susceptibility to nonalcoholic fatty liver disease. Nature Genetics 2008, 40:1461-1465.
4. Nischalke H.D., Berger C., Luda C., 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 2011, 6:e27087.
5. Trépo E., Guyot E., Ganne-Carrié N., et al. PNPLA3 (rs738409 C>G) is a common risk variant associated with hepatocellular carcinoma in alcoholic cirrhosis. Hepatology 2012, 55:1307-1308.
6. Valenti L., Rumi M., Galmozzi E., et al. Patatin-like phospholipase domain-containing 3 I148M polymorphism, steatosis, and liver damage in chronic hepatitis C. Hepatology 2011, 53:791-799.
7. Corradini S.G., Burza M.A., Molinaro A., Romeo S. Patatin-like phospholipase domain containing 3 sequence variant and hepatocellular carcinoma. Hepatology 2011, 53:1776.
8. Falleti E., Fabris C., Cmet S., et al. PNPLA3 rs738409C/G polymorphism in cirrhosis: relationship with the aetiology of liver disease and hepatocellular carcinoma occurrence. Liver International 2011, 31:1137-1143.
9. Sookoian S., Pirola C.J. 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 2011, 53:1883-1894.
10. Tian C., Stokowski R.P., Kershenobich D., et al. Variant in PNPLA3 is associated with alcoholic liver disease. Nature Genetics 2010, 42:21-23.
11. Trépo E., Gustot T., Degré D., et al. Common polymorphism in the PNPLA3/adiponutrin gene confers higher risk of cirrhosis and liver damage in alcoholic liver disease. Journal of Hepatology 2011, 55:906-912.
12. Valenti L., Al-Serri A., Daly A.K., et al. Homozygosity for the patatin-like phospholipase-3/adiponutrin I148M polymorphism influences liver fibrosis in patients with nonalcoholic fatty liver disease. Hepatology 2010, 51:1209-1217.
13. Romeo S., Sentinelli F., Dash S., et al. Morbid obesity exposes the association between PNPLA3 I148M (rs738409) and indices of hepatic injury in individuals of European descent. International Journal of Obesity (London) 2010, 34:190-194.
14. Romeo S., Sentinelli F., Cambuli V.M., et al. The 148M allele of the PNPLA3 gene is associated with indices of liver damage early in life. Journal of Hepatology 2010, 53:335-338.
15. 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, 52:1274-1280.
16. Giudice E.M., Grandone A., Cirillo G., et al. The association of PNPLA3 variants with liver enzymes in childhood obesity is driven by the interaction with abdominal fat. PLoS One 2011, 6:e27933.
17. Lin Y.C., Chang P.F., Hu F.C., et al. A common variant in the PNPLA3 gene is a risk factor for non-alcoholic fatty liver disease in obese Taiwanese children. Journal of Pediatrics 2011, 158:740-744.
18. Huang Y., He S., Li J.Z., et al. A feed-forward loop amplifies nutritional regulation of PNPLA3. Proceedings of the National Academy of Sciences of the United States of America 2010, 107:7892-7897.
19. He S., McPhaul C., Li J.Z., et al. A sequence variation (I148M) in PNPLA3 associated with nonalcoholic fatty liver disease disrupts triglyceride hydrolysis. Journal of Biological Chemistry 2010, 285:6706-6715.
20. Sjöström L., Larsson B., Backman L., et al. Swedish obese subjects (SOS). Recruitment for an intervention study and a selected description of the obese state. International Journal of Obesity and Related Metabolic Disorders 1992, 16:465-479.
21. Sjöström L., Lindroos A.K., Peltonen M., et al. Lifestyle, diabetes, and cardiovascular risk factors 10 years after bariatric surgery. New England Journal of Medicine 2004, 351:2683-2693.
22. Lindroos A.K., Lissner L., Sjöström L. Validity and reproducibility of a self-administered dietary questionnaire in obese and non-obese subjects. European Journal of Clinical Nutrition 1993, 47:461-481.
23. Brolin R.E. Results of obesity surgery. Gastroenterology Clinics of North America 1987, 16:317-338.
24. Sjostrom L., Narbro K., Sjostrom C.D., et al. Effects of bariatric surgery on mortality in Swedish obese subjects. New England Journal of Medicine 2007, 357:741-752.
25. Kollerits B., Coassin S., Beckmann N.D., et al. Genetic evidence for a role of adiponutrin in the metabolism of apolipoprotein B-containing lipoproteins. Human Molecular Genetics 2009, 18:4669-4676.
26. Sookoian S., Castaño G.O., Burgueño A.L., et al. A nonsynonymous gene variant in the adiponutrin gene is associated with nonalcoholic fatty liver disease severity. Journal of Lipid Research 2009, 50:2111-2116.
27. Rotman Y., Koh C., Zmuda J.M., et al. 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.
28. Speliotes E.K., Butler J.L., Palmer C.D., et al. PNPLA3 variants specifically confer increased risk for histologic nonalcoholic fatty liver disease but not metabolic disease. Hepatology 2010, 52:904-912.
29. Huang Y., Cohen J.C., Hobbs H.H. Expression and characterization of a PNPLA3 protein isoform (I148M) associated with nonalcoholic fatty liver disease. Journal of Biological Chemistry 2011, 286:37085-37093.