Hepatitis Monthly

Published by: Kowsar

Association of PNPLA3 I148M Variant With Chronic Viral Hepatitis, Autoimmune Liver Diseases and Outcomes of Liver Transplantation

Ning Geng 1 , Yong-Ning Xin 2 , * , Harry Hua-Xiang Xia 3 , Man Jiang 2 , Jian Wang 1 , Yang Liu 1 , Li-Zhen Chen 1 and Shi-Ying Xuan 2 , *
Authors Information
1 Qingdao Municipal Hospital, Medical College, Qingdao University, Qingdao, P. R. China
2 Department of Gastroenterology, Qingdao Municipal Hospital, Qingdao, P. R. China
3 Qingdao Municipal Hospital, Qingdao University, Qingdao, P. R. China
Corresponding Authors:
Article information
  • Hepatitis Monthly: May 01, 2015, 15 (4); e26459
  • Published Online: May 25, 2015
  • Article Type: Review Article
  • Received: December 29, 2014
  • Revised: March 15, 2015
  • Accepted: March 1, 2015
  • DOI: 10.5812/hepatmon.15(4)2015.26459

To Cite: Geng N, Xin Y, Xia H H, Jiang M, Wang J, et al. Association of PNPLA3 I148M Variant With Chronic Viral Hepatitis, Autoimmune Liver Diseases and Outcomes of Liver Transplantation, Hepat Mon. 2015 ;15(4):e26459. doi: 10.5812/hepatmon.15(4)2015.26459.

Abstract
Copyright © 2015, Kowsar Corp. This is an open-access article distributed under the terms of the Creative Commons Attribution-NonCommercial 4.0 International License (http://creativecommons.org/licenses/by-nc/4.0/) which permits copy and redistribute the material just in noncommercial usages, provided the original work is properly cited.
1. Context
2. Evidence Acquisition
3. Results
4. Conclusions
Acknowledgements
Footnotes
References
  • 1. Romeo S, Kozlitina J, Xing C, Pertsemlidis A, Cox D, Pennacchio LA, et al. Genetic variation in PNPLA3 confers susceptibility to nonalcoholic fatty liver disease. Nat Genet. 2008; 40(12): 1461-5[DOI][PubMed]
  • 2. Romeo S, Sentinelli F, Dash S, Yeo GS, Savage DB, Leonetti F, et al. Morbid obesity exposes the association between PNPLA3 I148M (rs738409) and indices of hepatic injury in individuals of European descent. Int J Obes (Lond). 2010; 34(1): 190-4[DOI][PubMed]
  • 3. Valenti L, Alisi A, Galmozzi E, Bartuli A, Del Menico B, Alterio A, et al. I148M patatin-like phospholipase domain-containing 3 gene variant and severity of pediatric nonalcoholic fatty liver disease. Hepatology. 2010; 52(4): 1274-80[DOI][PubMed]
  • 4. Zain SM, Mohamed R, Mahadeva S, Cheah PL, Rampal S, Basu RC, et al. A multi-ethnic study of a PNPLA3 gene variant and its association with disease severity in non-alcoholic fatty liver disease. Hum Genet. 2012; 131(7): 1145-52[DOI][PubMed]
  • 5. Tian C, Stokowski RP, Kershenobich D, Ballinger DG, Hinds DA. Variant in PNPLA3 is associated with alcoholic liver disease. Nat Genet. 2010; 42(1): 21-3[DOI][PubMed]
  • 6. Graff M, North KE, Franceschini N, Reiner AP, Feitosa M, Carr JJ, et al. PNPLA3 gene-by-visceral adipose tissue volume interaction and the pathogenesis of fatty liver disease: the NHLBI family heart study. Int J Obes (Lond). 2013; 37(3): 432-8[DOI][PubMed]
  • 7. Valenti L, Dongiovanni P, Ginanni Corradini S, Burza MA, Romeo S. PNPLA3 I148M variant and hepatocellular carcinoma: a common genetic variant for a rare disease. Dig Liver Dis. 2013; 45(8): 619-24[DOI][PubMed]
  • 8. Hourigan LF, Macdonald GA, Purdie D, Whitehall VH, Shorthouse C, Clouston A, et al. Fibrosis in chronic hepatitis C correlates significantly with body mass index and steatosis. Hepatology. 1999; 29(4): 1215-9[DOI][PubMed]
  • 9. Patton HM, Patel K, Behling C, Bylund D, Blatt LM, Vallee M, et al. The impact of steatosis on disease progression and early and sustained treatment response in chronic hepatitis C patients. J Hepatol. 2004; 40(3): 484-90[DOI][PubMed]
  • 10. Poynard T, Ratziu V, McHutchison J, Manns M, Goodman Z, Zeuzem S, et al. Effect of treatment with peginterferon or interferon alfa-2b and ribavirin on steatosis in patients infected with hepatitis C. Hepatology. 2003; 38(1): 75-85[DOI][PubMed]
  • 11. Tanaka A, Uegaki S, Kurihara H, Aida K, Mikami M, Nagashima I, et al. Hepatic steatosis as a possible risk factor for the development of hepatocellular carcinoma after eradication of hepatitis C virus with antiviral therapy in patients with chronic hepatitis C. World J Gastroenterol. 2007; 13(39): 5180-7[PubMed]
  • 12. 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(12): 2490-6[DOI][PubMed]
  • 13. Valenti L, Rumi M, Galmozzi E, Aghemo A, Del Menico B, De Nicola S, et al. Patatin-like phospholipase domain-containing 3 I148M polymorphism, steatosis, and liver damage in chronic hepatitis C. Hepatology. 2011; 53(3): 791-9[DOI][PubMed]
  • 14. Trepo E, Pradat P, Potthoff A, Momozawa Y, Quertinmont E, Gustot T, et al. Impact of patatin-like phospholipase-3 (rs738409 C>G) polymorphism on fibrosis progression and steatosis in chronic hepatitis C. Hepatology. 2011; 54(1): 60-9[DOI][PubMed]
  • 15. Rueger S, Bochud PY, Dufour JF, Mullhaupt B, Semela D, Heim MH, et al. Impact of common risk factors of fibrosis progression in chronic hepatitis C. Gut. 2014; [DOI][PubMed]
  • 16. De Nicola S, Dongiovanni P, Aghemo A, Cheroni C, D'Ambrosio R, Pedrazzini M, et al. Interaction between PNPLA3 I148M variant and age at infection in determining fibrosis progression in chronic hepatitis C. PLoS One. 2014; 9(8)[DOI][PubMed]
  • 17. Cai T, Dufour JF, Muellhaupt B, Gerlach T, Heim M, Moradpour D, et al. Viral genotype-specific role of PNPLA3, PPARG, MTTP, and IL28B in hepatitis C virus-associated steatosis. J Hepatol. 2011; 55(3): 529-35[DOI][PubMed]
  • 18. Rembeck K, Maglio C, Lagging M, Christensen PB, Farkkila M, Langeland N, et al. PNPLA 3 I148M genetic variant associates with insulin resistance and baseline viral load in HCV genotype 2 but not in genotype 3 infection. BMC Med Genet. 2012; 13: 82[DOI][PubMed]
  • 19. Zampino R, Coppola N, Cirillo G, Boemio A, Pisaturo M, Marrone A, et al. Abdominal fat interacts with PNPLA3 I148M, but not with the APOC3 variant in the pathogenesis of liver steatosis in chronic hepatitis C. J Viral Hepat. 2013; 20(8): 517-23[DOI][PubMed]
  • 20. Despres JP, Lemieux I. Abdominal obesity and metabolic syndrome. Nature. 2006; 444(7121): 881-7[DOI][PubMed]
  • 21. Valenti L, Aghemo A, Stattermayer AF, Maggioni P, De Nicola S, Motta BM, et al. Implications of PNPLA3 polymorphism in chronic hepatitis C patients receiving peginterferon plus ribavirin. Aliment Pharmacol Ther. 2012; 35(12): 1434-42[PubMed]
  • 22. Clark PJ, Thompson AJ, Zhu Q, Vock DM, Zhu M, Patel K, et al. The association of genetic variants with hepatic steatosis in patients with genotype 1 chronic hepatitis C infection. Dig Dis Sci. 2012; 57(8): 2213-21[DOI][PubMed]
  • 23. Moritou Y, Ikeda F, Iwasaki Y, Baba N, Takaguchi K, Senoh T, et al. Impact of comorbid hepatic steatosis on treatment of chronic hepatitis C in Japanese patients and the relationship with genetic polymorphism of IL28B, PNPLA3 and LDL receptor. Acta Med Okayama. 2014; 68(1): 17-22[PubMed]
  • 24. Aghemo A. Understanding the role of PNPLA3 genetic variants in patients with chronic hepatitis C infection. Dig Dis Sci. 2012; 57(8): 1977-9[DOI][PubMed]
  • 25. Corradini SG, Burza MA, Molinaro A, Romeo S. Patatin-like phospholipase domain containing 3 sequence variant and hepatocellular carcinoma. Hepatology. 2011; 53(5): 1776[DOI][PubMed]
  • 26. Nischalke HD, Berger C, Luda C, Berg T, Muller T, Grunhage F, 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(11)[DOI][PubMed]
  • 27. Guyot E, Sutton A, Rufat P, Laguillier C, Mansouri A, Moreau R, et al. PNPLA3 rs738409, hepatocellular carcinoma occurrence and risk model prediction in patients with cirrhosis. J Hepatol. 2013; 58(2): 312-8[DOI][PubMed]
  • 28. Sato M, Kato N, Tateishi R, Muroyama R, Kowatari N, Li W, et al. Impact of PNPLA3 polymorphisms on the development of hepatocellular carcinoma in patients with chronic hepatitis C virus infection. Hepatol Res. 2014; 44(10)-44[DOI][PubMed]
  • 29. Thomopoulos KC, Arvaniti V, Tsamantas AC, Dimitropoulou D, Gogos CA, Siagris D, et al. Prevalence of liver steatosis in patients with chronic hepatitis B: a study of associated factors and of relationship with fibrosis. Eur J Gastroenterol Hepatol. 2006; 18(3): 233-7[PubMed]
  • 30. Petta S, Camma C, Di Marco V, Macaluso FS, Maida M, Pizzolanti G, et al. Hepatic steatosis and insulin resistance are associated with severe fibrosis in patients with chronic hepatitis caused by HBV or HCV infection. Liver Int. 2011; 31(4): 507-15[PubMed]
  • 31. Wong VW, Wong GL, Yu J, Choi PC, Chan AW, Chan HY, et al. Interaction of adipokines and hepatitis B virus on histological liver injury in the Chinese. Am J Gastroenterol. 2010; 105(1): 132-8[DOI][PubMed]
  • 32. Vigano M, Valenti L, Lampertico P, Facchetti F, Motta BM, D'Ambrosio R, et al. Patatin-like phospholipase domain-containing 3 I148M affects liver steatosis in patients with chronic hepatitis B. Hepatology. 2013; 58(4): 1245-52[DOI][PubMed]
  • 33. Falleti E, Fabris C, Cmet S, Cussigh A, Bitetto D, Fontanini E, et al. PNPLA3 rs738409C/G polymorphism in cirrhosis: relationship with the aetiology of liver disease and hepatocellular carcinoma occurrence. Liver Int. 2011; 31(8): 1137-43[PubMed]
  • 34. Tong J, Guo J, Hu J, Hou S, Zhang Y, Li Q. Correlation between patatin-like phospholipase domain-containing protein 3 gene polymorphisms and liver cirrhosis in a chinese han population with chronic hepatitis B. Hepat Mon. 2014; 14(8)[DOI][PubMed]
  • 35. Negro F, Sanyal AJ. Hepatitis C virus, steatosis and lipid abnormalities: clinical and pathogenic data. Liver Int. 2009; 29 Suppl 2: 26-37[PubMed]
  • 36. Hui JM, Kench J, Farrell GC, Lin R, Samarasinghe D, Liddle C, et al. Genotype-specific mechanisms for hepatic steatosis in chronic hepatitis C infection. J Gastroenterol Hepatol. 2002; 17(8): 873-81[PubMed]
  • 37. Fartoux L, Poujol-Robert A, Guechot J, Wendum D, Poupon R, Serfaty L. Insulin resistance is a cause of steatosis and fibrosis progression in chronic hepatitis C. Gut. 2005; 54(7): 1003-8[DOI][PubMed]
  • 38. Aly HH, Oshiumi H, Shime H, Matsumoto M, Wakita T, Shimotohno K, et al. Development of mouse hepatocyte lines permissive for hepatitis C virus (HCV). PLoS One. 2011; 6(6)[DOI][PubMed]
  • 39. Bassendine MF, Sheridan DA, Felmlee DJ, Bridge SH, Toms GL, Neely RD. HCV and the hepatic lipid pathway as a potential treatment target. J Hepatol. 2011; 55(6): 1428-40[DOI][PubMed]
  • 40. Targett-Adams P, Boulant S, Douglas MW, McLauchlan J. Lipid metabolism and HCV infection. Viruses. 2010; 2(5): 1195-217[DOI][PubMed]
  • 41. Olofsson SO, Bostrom P, Andersson L, Rutberg M, Levin M, Perman J, et al. Triglyceride containing lipid droplets and lipid droplet-associated proteins. Curr Opin Lipidol. 2008; 19(5): 441-7[DOI][PubMed]
  • 42. McLauchlan J. Lipid droplets and hepatitis C virus infection. Biochim Biophys Acta. 2009; 1791(6): 552-9[DOI][PubMed]
  • 43. Moriya K, Yotsuyanagi H, Shintani Y, Fujie H, Ishibashi K, Matsuura Y, et al. Hepatitis C virus core protein induces hepatic steatosis in transgenic mice. J Gen Virol. 1997; 78 ( Pt 7): 1527-31[PubMed]
  • 44. Dyson JK, Waller J, Turley A, Michael E, Moses S, Valappil M, et al. Hepatitis B in pregnancy. Frontline Gastroenterol. 2014; 5(2): 111-7[DOI][PubMed]
  • 45. Chamoun Z, Vacca F, Parton RG, Gruenberg J. PNPLA3/adiponutrin functions in lipid droplet formation. Biol Cell. 2013; 105(5): 219-33[DOI][PubMed]
  • 46. Bugianesi E, Salamone F, Negro F. The interaction of metabolic factors with HCV infection: does it matter? J Hepatol. 2012; 56 Suppl 1-65[DOI][PubMed]
  • 47. Xia HHX. Liver Diseases and Autoimmunity. Journal of Clinical and Translational Hepatology. 2013; 1(2): 144
  • 48. Deutsch M, Emmanuel T, Koskinas J. Autoimmune Hepatitis or Wilson's Disease, a Clinical Dilemma. Hepat Mon. 2013; 13(5)[DOI][PubMed]
  • 49. Geramizadeh B, Nikeghbalian S, Shamsaifar A, Kazemi K, Malekhosseini SA. Hepatocellular carcinoma in two patients with autoimmune hepatitis, a single center experience and review of the literature. Hepat Mon. 2013; 13(4)[DOI][PubMed]
  • 50. Rezaee Zavareh MS, Alavian SM, Karimisari H, Shafiei M, Saiedi Hosseini SY. Occult hepatitis C virus infection in patients with autoimmune hepatitis. Hepat Mon. 2014; 14(8)[DOI][PubMed]
  • 51. Pratico AD, Salafia S, Barone P, La Rosa M, Leonardi S. Type II Autoimmune Hepatitis and Small Duct Sclerosing Cholangitis in a Seven Years Old Child: An Overlap Syndrome? Hepat Mon. 2013; 13(12)[DOI][PubMed]
  • 52. Najafi M, Sadjadei N, Etekhari K, Khodadad A, Motamed F, Fallahi GH, et al. Prevalence of Celiac Disease in Children with Autoimmune Hepatitis and vice versa. Iranian Journal of Pediatrics. 2014; 24(6): 723-8
  • 53. Friedrich K, Rupp C, Hov JR, Steinebrunner N, Weiss KH, Stiehl A, et al. A frequent PNPLA3 variant is a sex specific disease modifier in PSC patients with bile duct stenosis. PLoS One. 2013; 8(3)[DOI][PubMed]
  • 54. 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): 1883-94[DOI][PubMed]
  • 55. Murray KF, Carithers RLJ, Aasld . AASLD practice guidelines: Evaluation of the patient for liver transplantation. Hepatology. 2005; 41(6): 1407-32[DOI][PubMed]
  • 56. Dehghani SM, Haghighat M, Imanieh MH, Honar N, Negarestani AM, Malekpour A, et al. Autoimmune hepatitis in children: experiences in a tertiary center. Iran J Pediatr. 2013; 23(3): 302-8[PubMed]
  • 57. Lankarani KB. Liver Transplantation for Quality as well as Quantity of Life. Hepat Mon. 2013; 13(10)[DOI][PubMed]
  • 58. Akamatsu N, Sugawara Y. Liver transplantation and hepatitis C. Int J Hepatol. 2012; 2012: 686135[DOI][PubMed]
  • 59. Do ON, Eurich D, Trautwein C, Neuhaus P, Neumann UP, Wasmuth HE. The common I148 M variant of PNPLA3 does not predict fibrosis progression after liver transplantation for hepatitis C. Hepatology. 2011; 54(4): 1483-4[DOI][PubMed]
  • 60. Dunn W, O'Neil M, Zhao J, Wu CH, Roberts B, Chakraborty S, et al. Donor PNPLA3 rs738409 genotype affects fibrosis progression in liver transplantation for hepatitis C. Hepatology. 2014; 59(2): 453-60[DOI][PubMed]
  • 61. Finkenstedt A, Auer C, Glodny B, Posch U, Steitzer H, Lanzer G, et al. Patatin-like phospholipase domain-containing protein 3 rs738409-G in recipients of liver transplants is a risk factor for graft steatosis. Clin Gastroenterol Hepatol. 2013; 11(12): 1667-72[DOI][PubMed]
  • 62. Couto CA, Gelape CL, Doycheva IB, Kish JK, Martin P, Levy C. Ethnicity predicts metabolic syndrome after liver transplant. Hepatology International. 2013; 7(2): 741-8
  • 63. Watt KD, Dierkhising R, Fan C, Heimbach JK, Tillman H, Goldstein D, et al. Investigation of PNPLA3 and IL28B genotypes on diabetes and obesity after liver transplantation: insight into mechanisms of disease. Am J Transplant. 2013; 13(9): 2450-7[DOI][PubMed]
  • 64. Karlas T, Kollmeier J, Böhm S, Müller J, Tröltzsch M, Weimann A, et al. P805 Non-Invasive Characterization of Post-Transplant Fatty Liver Disease Reveals High Prevalence of Graft Injury in Association with Metabolic Syndrome, Recipient Pnpla3 Genotype and Alcoholic Liver Cirrhosis. Journal of Hepatology. 2014; 60(1)
Creative Commons License Except where otherwise noted, this work is licensed under Creative Commons Attribution Non Commercial 4.0 International License .

Search Relations:

Author(s):

Article(s):

Create Citiation Alert
via Google Reader

Readers' Comments