The i148m Pnpla3 polymorphism influences serum adiponectin in patients with fatty liver and healthy controls

BMC Gastroenterology

Volumn 12, Issue , 2012, Pages

  Valenti, Luca ^a   Rametta, Raffaela ^a   Ruscica, Massimiliano ^a   Dongiovanni, Paola ^a   Steffani, Liliana ^a   Motta, Benedetta M ^a   Canavesi, Elena ^a   Fracanzani, Anna L ^a   Mozzi, Enrico ^a   Roviaro, Giancarlo ^a   Magni, Paolo ^a   Fargion, Silvia ^a  

^a UNIVERSITY OF MILAN   (Italy)

Author keywords

Adiponectin; Adiponutrin; Chronic hepatitis C; Fibrosis; Gender; Genetics; Nonalcoholic fatty liver disease; Nonalcoholic steatohepatitis; Pnpla3; Steatosis

Indexed keywords

ADIPONECTIN; MESSENGER RNA; PNPLA3 PROTEIN; PROTEIN; UNCLASSIFIED DRUG;

ADULT; ALLELE; ARTICLE; BARIATRIC SURGERY; BODY MASS; CLINICAL FEATURE; CONTROLLED STUDY; DISEASE SEVERITY; ENZYME LINKED IMMUNOSORBENT ASSAY; ETHNIC GROUP; FATTY LIVER; FEMALE; GENE; GENETIC POLYMORPHISM; GENOTYPE; HEPATITIS C; HUMAN; HUMAN TISSUE; ITALIAN; LIVER DISEASE; LIVER INJURY; MAJOR CLINICAL STUDY; MALE; NONALCOHOLIC FATTY LIVER; PATHOGENESIS; PNPLA3 GENE; REAL TIME POLYMERASE CHAIN REACTION; STEATOSIS;

ADIPONECTIN; ADULT; AGED; ALLELES; CASE-CONTROL STUDIES; FATTY LIVER; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HEPATITIS C, CHRONIC; HUMANS; LIPASE; MALE; MEMBRANE PROTEINS; MIDDLE AGED; MULTIVARIATE ANALYSIS; OBESITY; POLYMORPHISM, GENETIC; RISK FACTORS;

EID: 84864923656     PISSN: None     EISSN: 1471230X     Source Type: Journal    
DOI: 10.1186/1471-230X-12-111     Document Type: Article

References (41)

1. Bellentani S, Saccoccio G, Masutti F, Croce LS, Brandi G, Sasso F, Cristanini G, Tiribelli C. Prevalence of and risk factors for hepatic steatosis in Northern Italy. Ann Intern Med 2000, 132(2):112-117.
2. Bugianesi E, Leone N, Vanni E, Marchesini G, Brunello F, Carucci P, Musso A, De Paolis P, Capussotti L, Salizzoni M, et al. Expanding the natural history of nonalcoholic steatohepatitis: from cryptogenic cirrhosis to hepatocellular carcinoma. Gastroenterology 2002, 123(1):134-140. 10.1053/gast.2002.34168, 12105842.
3. Marchesini G, Brizi M, Bianchi G, Tomassetti S, Bugianesi E, Lenzi M, McCullough AJ, Natale S, Forlani G, Melchionda N. Nonalcoholic fatty liver disease: a feature of the metabolic syndrome. Diabetes 2001, 50(8):1844-1850. 10.2337/diabetes.50.8.1844, 11473047.
4. Valenti L, Rametta R, Dongiovanni P, Maggioni M, Fracanzani AL, Zappa M, Lattuada E, Roviaro G, Fargion S. Increased expression and activity of the transcription factor FOXO1 in nonalcoholic steatohepatitis. Diabetes 2008, 57(5):1355-1362. 10.2337/db07-0714, 18316359.
5. Bugianesi E, Gastaldelli A, Vanni E, Gambino R, Cassader M, Baldi S, Ponti V, Pagano G, Ferrannini E, Rizzetto M. Insulin resistance in non-diabetic patients with non-alcoholic fatty liver disease: sites and mechanisms. Diabetologia 2005, 48(4):634-642. 10.1007/s00125-005-1682-x, 15747110.
6. Kotronen A, Juurinen L, Tiikkainen M, Vehkavaara S, Yki-Jarvinen H. Increased liver fat, impaired insulin clearance, and hepatic and adipose tissue insulin resistance in type 2 diabetes. Gastroenterology 2008, 135(1):122-130. 10.1053/j.gastro.2008.03.021, 18474251.
7. Donnelly KL, Smith CI, Schwarzenberg SJ, Jessurun J, Boldt MD, Parks EJ. Sources of fatty acids stored in liver and secreted via lipoproteins in patients with nonalcoholic fatty liver disease. J Clin Invest 2005, 115(5):1343-1351. 1087172, 15864352.
8. Kadowaki T, Yamauchi T. Adiponectin and adiponectin receptors. Endocr Rev 2005, 26(3):439-451. 10.1210/er.2005-0005, 15897298.
9. Bugianesi E, Pagotto U, Manini R, Vanni E, Gastaldelli A, de Iasio R, Gentilcore E, Natale S, Cassader M, Rizzetto M, et al. Plasma adiponectin in nonalcoholic fatty liver is related to hepatic insulin resistance and hepatic fat content, not to liver disease severity. J Clin Endocrinol Metab 2005, 90(6):3498-3504. 10.1210/jc.2004-2240, 15797948.
10. Musso G, Gambino R, Biroli G, Carello M, Faga E, Pacini G, De Michieli F, Cassader M, Durazzo M, Rizzetto M, et al. Hypoadiponectinemia predicts the severity of hepatic fibrosis and pancreatic Beta-cell dysfunction in nondiabetic nonobese patients with nonalcoholic steatohepatitis. Am J Gastroenterol 2005, 100(11):2438-2446. 10.1111/j.1572-0241.2005.00297.x, 16279898.
11. Bianchi G, Bugianesi E, Frystyk J, Tarnow L, Flyvbjerg A, Marchesini G. Adiponectin isoforms, insulin resistance and liver histology in nonalcoholic fatty liver disease. Dig Liver Dis 2010, 43(1):73-77.
12. Gastaldelli A, Harrison SA, Belfort-Aguilar R, Hardies LJ, Balas B, Schenker S, Cusi K. Importance of changes in adipose tissue insulin resistance to histological response during thiazolidinedione treatment of patients with nonalcoholic steatohepatitis. Hepatology 2009, 50(4):1087-1093. 10.1002/hep.23116, 19670459.
13. Polyzos SA, Toulis KA, Goulis DG, Zavos C, Kountouras J. Serum total adiponectin in nonalcoholic fatty liver disease: a systematic review and meta-analysis. Metabolism 2010, 60(5):313-326.
14. Corbetta S, Redaelli A, Pozzi M, Bovo G, Ratti L, Redaelli E, Pellegrini C, Beck-Peccoz P, Spada A. Fibrosis is associated with adiponectin resistance in chronic hepatitis C virus infection. Eur J Clin Invest 2011, 41(8):898-905. 10.1111/j.1365-2362.2011.02498.x, 21539538.
15. Petit JM, Minello A, Jooste V, Bour JB, Galland F, Duvillard L, Verges B, Olsson NO, Gambert P, Hillon P. Decreased plasma adiponectin concentrations are closely related to steatosis in hepatitis C virus-infected patients. J Clin Endocrinol Metab 2005, 90(4):2240-2243. 10.1210/jc.2004-1266, 15644404.
16. Romeo S, Kozlitina J, Xing C, Pertsemlidis A, Cox D, Pennacchio LA, Boerwinkle E, Cohen JC, Hobbs HH. Genetic variation in PNPLA3 confers susceptibility to nonalcoholic fatty liver disease. Nat Genet 2008, 40:1461-1465. 10.1038/ng.257, 2597056, 18820647.
17. Valenti L, Al-Serri A, Daly AK, Galmozzi E, Rametta R, Dongiovanni P, Nobili V, Mozzi E, Roviaro G, Vanni E, et al. Homozygosity for the PNPLA3 / adiponutrin I148M polymorphism influences liver fibrosis in patients with nonalcoholic fatty liver disease. Hepatology 2010, 51:1209-1217. 10.1002/hep.23622, 20373368.
18. Kotronen A, Johansson LE, Johansson LM, Roos C, Westerbacka J, Hamsten A, Bergholm R, Arkkila P, Arola J, Kiviluoto T, et al. A common variant in PNPLA3, which encodes adiponutrin, is associated with liver fat content in humans. Diabetologia 2009, 52(6):1056-1060. 10.1007/s00125-009-1285-z, 19224197.
19. Valenti L, Alisi A, Galmozzi E, Bartuli A, Del Menico B, Alterio A, Dongiovanni P, Fargion S, Nobili V. I148M patatin-like phospholipase domain-containing 3 gene variant and severity of pediatric nonalcoholic fatty liver disease. Hepatology 2010, 52:1274-1280. 10.1002/hep.23823, 20648474.
20. Trepo E, Pradat P, Potthoff A, Momozawa Y, Quertinmont E, Gustot T, Lemmers A, Berthillon P, Amininejad L, Chevalier M, et al. Impact of PNPLA3 (rs738409 C > G) polymorphism on fibrosis progression and steatosis in chronic hepatitis C. Hepatology 2011, 54:60-69. 10.1002/hep.24350, 21488075.
21. Valenti L, Rumi M, Galmozzi E, Aghemo A, Del Menico B, De Nicola S, Dongiovanni P, Maggioni M, Fracanzani AL, Rametta R, et al. Patatin-Like phospholipase domain-containing 3 I148M polymorphism, steatosis, and liver damage in chronic hepatitis C. Hepatology 2011, 53(3):791-799. 10.1002/hep.24123, 21319195.
22. Valenti L, Alisi A, Nobili V. I148M PNPLA3 variant and progressive liver disease: A new paradigm in hepatology. Hepatology 2012, 55(3).
23. He S, McPhaul C, Li JZ, Garuti R, Kinch LN, Grishin NV, Cohen JC, Hobbs HH. A sequence variation (I148M) in PNPlA3 associated with nonalcoholic fatty liver disease disrupts triglyceride hydrolysis. J Biol Chem 2009, 285:6706-6715. 2825465, 20034933.
24. Qiao A, Liang J, Ke Y, Li C, Cui Y, Shen L, Zhang H, Cui A, Liu X, Liu C, et al. Mouse PNPLA3 influences systemic lipid and glucose homeostasis. Hepatology 2011, 54(2):509-521. 10.1002/hep.24402, 21547936.
25. Chen W, Chang B, Li L, Chan L. Patatin-like phospholipase domain-containing 3/adiponutrin deficiency in mice is not associated with fatty liver disease. Hepatology 2010, 52(3):1134-1142. 10.1002/hep.23812, 2932863, 20648554.
26. Santoro N, Kursawe R, D'Adamo E, Dykas DJ, Zhang CK, Bale AE, Cali AM, Narayan D, Shaw MM, Pierpont B, 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, 52:1182-1189.
27. Ling H, Waterworth DM, Stirnadel HA, Pollin TI, Barter PJ, Kesaniemi YA, Mahley RW, McPherson R, Waeber G, Bersot TP, et al. Genome-wide linkage and association analyses to identify genes influencing adiponectin levels: the GEMS Study. Obesity (Silver Spring) 2009, 17(4):737-744.
28. Richards JB, Waterworth D, O'Rahilly S, Hivert MF, Loos RJ, Perry JR, Tanaka T, Timpson NJ, Semple RK, Soranzo N, et al. A genome-wide association study reveals variants in ARL15 that influence adiponectin levels. PLoS Genet 2009, 5(12):e1000768. 10.1371/journal.pgen.1000768, 2781107, 20011104.
29. Musso G, Gambino R, De Michieli F, Durazzo M, Pagano G, Cassader M. Adiponectin gene polymorphisms modulate acute adiponectin response to dietary fat: Possible pathogenetic role in NASH. Hepatology 2008, 47(4):1167-1177. 10.1002/hep.22142, 18311774.
30. Bedogni G, Bellentani S, Miglioli L, Masutti F, Passalacqua M, Castiglione A, Tiribelli C. The Fatty Liver Index: a simple and accurate predictor of hepatic steatosis in the general population. BMC Gastroenterol 2006, 6:33. 10.1186/1471-230X-6-33, 1636651, 17081293.
31. Kleiner DE, Brunt EM, Van Natta M, Behling C, Contos MJ, Cummings OW, Ferrell LD, Liu YC, Torbenson MS, Unalp-Arida A, et al. Design and validation of a histological scoring system for nonalcoholic fatty liver disease. Hepatology 2005, 41(6):1313-1321. 10.1002/hep.20701, 15915461.
32. Ishak K, Baptista A, Bianchi L, Callea F, De Groote J, Gudat F, Denk H, Desmet V, Korb G, MacSween RN, et al. Histological grading and staging of chronic hepatitis. J Hepatol 1995, 22(6):696-699. 10.1016/0168-8278(95)80226-6, 7560864.
33. Magni P, Ruscica M, Dozio E, Passafaro L, Steffani L, Morelli P, Banfi G, Corsi MM. Plasma adiponectin and leptin concentrations in professional rugby players. J Biol Regul Homeost Agents 2010, 24(1):87-91.
34. Gastaldelli A, Cusi K, Pettiti M, Hardies J, Miyazaki Y, Berria R, Buzzigoli E, Sironi AM, Cersosimo E, Ferrannini E, et al. Relationship between hepatic/visceral fat and hepatic insulin resistance in nondiabetic and type 2 diabetic subjects. Gastroenterology 2007, 133(2):496-506. 10.1053/j.gastro.2007.04.068, 17681171.
35. Hui JM, Hodge A, Farrell GC, Kench JG, Kriketos A, George J. Beyond insulin resistance in NASH: TNF-alpha or adiponectin?. Hepatology 2004, 40(1):46-54. 10.1002/hep.20280, 15239085.
36. Sookoian S, Pirola CJ. 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(6):1883-1894. 10.1002/hep.24283, 21381068.
37. Farrell GC. PNPLeAse get the fats right: does lipogenesis or lipolysis cause NASH?. Hepatology 2010, 52(3):818-821. 10.1002/hep.23867, 20812356.
38. Wang CW, Lin HY, Shin SJ, Yu ML, Lin ZY, Dai CY, Huang JF, Chen SC, Li SS, Chuang WL. The PNPLA3 I148M polymorphism is associated with insulin resistance and nonalcoholic fatty liver disease in a normoglycaemic population. Liver Int 2011, 31(9):1326-1331. 10.1111/j.1478-3231.2011.02526.x, 21745282.
39. Palmer CN, Maglio C, Pirazzi C, Burza MA, Adiels M, Burch L, Donnelly LA, Colhoun H, Doney AS, Dillon JF, et al. Paradoxical Lower Serum Triglyceride Levels and Higher Type 2 Diabetes Mellitus Susceptibility in Obese Individuals with the PNPLA3 148 M Variant. PLoS One 2012, 7(6):e39362. 10.1371/journal.pone.0039362, 3377675, 22724004.
40. Hennige AM, Staiger H, Wicke C, Machicao F, Fritsche A, Haring HU, Stefan N. Fetuin-A induces cytokine expression and suppresses adiponectin production. PLoS One 2008, 3(3):e1765. 10.1371/journal.pone.0001765, 2258416, 18335040.
41. Pare G, Ridker PM, Rose L, Barbalic M, Dupuis J, Dehghan A, Bis JC, Benjamin EJ, Shiffman D, Parker AN, et al. Genome-wide association analysis of soluble ICAM-1 concentration reveals novel associations at the NFKBIK, PNPLA3, RELA, and SH2B3 loci. PLoS Genet 2011, 7(4):e1001374. 10.1371/journal.pgen.1001374, 3080865, 21533024.