Systematic review with meta-analysis: The I148M variant of patatin-like phospholipase domain-containing 3 gene (PNPLA3) is significantly associated with alcoholic liver cirrhosis

Alimentary Pharmacology and Therapeutics

Volumn 40, Issue 6, 2014, Pages 571-581

  Chamorro, A J ^a   Torres, J L ^a   Miron Canelo J A ^b   Gonzalez Sarmiento R ^b   Laso, F J ^a   Marcos, M ^a  

^a HOSPITAL UNIVERSITARIO DE SALAMANCA   (Spain)

^b UNIVERSITY OF SALAMANCA   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

ALCOHOL LIVER CIRRHOSIS; CAUCASIAN; DISEASE ASSOCIATION; GENE; GENE FREQUENCY; GENETIC ASSOCIATION; GENETIC MODEL; GENETIC RISK; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; HUMAN; PNPLA3 GENE; PREVALENCE; PRIORITY JOURNAL; REVIEW; RISK ASSESSMENT; SINGLE NUCLEOTIDE POLYMORPHISM; SYSTEMATIC REVIEW;

GENETIC VARIATION; HUMANS; LIPASE; LIVER DISEASES, ALCOHOLIC; MEMBRANE PROTEINS; ODDS RATIO;

EID: 84906253627     PISSN: 02692813     EISSN: 13652036     Source Type: Journal    
DOI: 10.1111/apt.12890     Document Type: Review

References (40)

1. Rehm J, Mathers C, Popova S, Thavorncharoensap M, Teerawattananon Y, Patra J,. Global burden of disease and injury and economic cost attributable to alcohol use and alcohol-use disorders. Lancet 2009; 373: 2223-33.
2. Gao B, Bataller R,. Alcoholic liver disease: pathogenesis and new therapeutic targets. Gastroenterology 2011; 141: 1572-85.
3. Reed T, Page WF, Viken RJ, Christian JC,. Genetic predisposition to organ-specific endpoints of alcoholism. Alcohol Clin Exp Res 1996; 20: 1528-33.
4. Stickel F, Hampe J,. Genetic determinants of alcoholic liver disease. Gut 2012; 61: 150-9.
5. Marcos M, Gomez-Munuera M, Pastor I, Gonzalez-Sarmiento R, Laso FJ,. Tumor necrosis factor polymorphisms and alcoholic liver disease: a HuGE review and meta-analysis. Am J Epidemiol 2009; 170: 948-56.
6. Marcos M, Pastor I, Chamorro AJ, Ciria-Abad S, Gonzalez-Sarmiento R, Laso FJ,. Meta-analysis: glutathione-S-transferase allelic variants are associated with alcoholic liver disease. Aliment Pharmacol Ther 2011; 34: 1159-72.
7. Zintzaras E, Stefanidis I, Santos M, Vidal F,. Do alcohol-metabolizing enzyme gene polymorphisms increase the risk of alcoholism and alcoholic liver disease? Hepatology 2006; 43: 352-61.
8. 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.
9. Stickel F, Buch S, Lau K, et al,. Genetic variation in the PNPLA3 gene is associated with alcoholic liver injury in caucasians. Hepatology 2011; 53: 86-95.
10. Tian C, Stokowski RP, Kershenobich D, Ballinger DG, Hinds DA,. Variant in PNPLA3 is associated with alcoholic liver disease. Nat Genetics 2010; 42: 21-3.
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. J Hepatology 2011; 55: 906-12.
12. Dongiovanni P, Donati B, Fares R, et al,. PNPLA3 I148M polymorphism and progressive liver disease. World J Gastroenterol 2013; 19: 6969-78.
13. Ioannidis JP, Boffetta P, Little J, et al,. Assessment of cumulative evidence on genetic associations: interim guidelines. Int J Epidemiol 2008; 37: 120-32.
14. 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: 1883-94.
15. Trepo E, Nahon P, Bontempi G, et al,. Association between the PNPLA3 (rs738409 C>G) variant and hepatocellular carcinoma: evidence from a meta-analysis of individual participant data. Hepatology 2014; 59: 2170-7.
16. Cochran WG,. The combination of estimates from different experiments. Biometrics 1954; 10: 101-29.
17. Higgins JP, Thompson SG, Deeks JJ, Altman DG,. Measuring inconsistency in meta-analyses. BMJ 2003; 327: 557-60.
18. Minelli C, Thompson JR, Abrams KR, Thakkinstian A, Attia J,. The choice of a genetic model in the meta-analysis of molecular association studies. Int J Epidemiol 2005; 34: 1319-28.
19. Begg CB, Mazumdar M,. Operating characteristics of a rank correlation test for publication bias. Biometrics 1994; 50: 1088-101.
20. Deeks J, Altman D, Bradburn M,. Statistical methods for examining heterogeneity and combining results from several studies in meta-analysis. In:, Egger M, Davey Smith G, Altman DG, eds. Systematic Reviews in Health Care-Meta-analysis in Context. London, UK: BMJ Books, 2005; 285-312.
21. Duval S, Tweedie R,. Trim and fill: a simple funnel-plot-based method of testing and adjusting for publication bias in meta-analysis. Biometrics 2000; 56: 455-63.
22. Revman. Review Manager (RevMan) [Computer program]. Version 5.0. Copenhagen: The Nordic Cochrane Centre, The Cochrane Collaboration, 2008.
23. Burza MA, Molinaro A, Attilia ML, et al,. PNPLA3 I148M (rs738409) genetic variant and age at onset of at-risk alcohol consumption are independent risk factors for alcoholic cirrhosis. Liver Int 2014; 34: 514-20.
24. Dunn W, Zeng Z, O'Neil M, et al,. The interaction of rs738409, obesity, and alcohol: a population-based autopsy study. Am J Gastroenterol 2012; 107: 1668-74.
25. Guyot E, Sutton A, Rufat P, et al,. PNPLA3 rs738409, hepatocellular carcinoma occurrence and risk model prediction in patients with cirrhosis. J Hepatol 2013; 58: 312-8.
26. Valenti L, Alisi A, Nobili V,. I148M PNPLA3 variant and progressive liver disease: a new paradigm in hepatology. Hepatology 2012; 56: 791.
27. Friedrich K, Wannhoff A, Rupp C, et al,. PNPLA3 in end-stage liver disease: alcohol consumption. HCC development and liver transplantation. Hepatology 2013; 1: 1234A.
28. Krawczyk M, Grunhage F, Zimmer V, Lammert F,. Variant adiponutrin (PNPLA3) represents a common fibrosis risk gene: non-invasive elastography-based study in chronic liver disease. J Hepatol 2011; 55: 299-306.
29. 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. Liv Int 2011; 31: 1137-43.
30. Way MJ, Morgan M,. The Pnpla3 I148m mutation significantly increases the risk of developing alcohol-related cirrhosis in alcohol dependent individuals. Alcohol Alcohol 2013; 48: 37-37.
31. Nguyen-Khac E, Houchi H, Dreher ML, Herpe YE, Naassila M,. Is PNPLA3 polymorphism involved in severe acute alcoholic hepatitis. Hepatology 2011; 54: 976A.
32. Nischalke HD, 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.
33. Rosendahl J, Tonjes A, Schleinitz D, et al,. A common variant of PNPLA3 (p. I148M) is not associated with alcoholic chronic pancreatitis. PLoS ONE 2012; 7: e29433.
34. Seth D, Daly AK, Haber PS, Day CP,. Patatin-like phospholipase domain containing 3: a case in point linking genetic susceptibility for alcoholic and nonalcoholic liver disease. Hepatology 2010; 51: 1463-5.
35. Dutta AK,. Genetic factors affecting susceptibility to alcoholic liver disease in an Indian population. Ann Hepatol 2013; 12: 901-7.
36. Ioannidis JP, Ntzani EE, Trikalinos TA, Contopoulos-Ioannidis DG,. Replication validity of genetic association studies. Nat Genet 2001; 29: 306-9.
37. Wong NA, Rae F, Simpson KJ, Murray GD, Harrison DJ,. Genetic polymorphisms of cytochrome p4502E1 and susceptibility to alcoholic liver disease and hepatocellular carcinoma in a white population: a study and literature review, including meta-analysis. Mol Pathol 2000; 53: 88-93.
38. Singal AG, Manjunath H, Yopp AC, et al,. The effect of PNPLA3 on fibrosis progression and development of hepatocellular carcinoma: a meta-analysis. Am J Gastroenterol 2014; 109: 325-34.
39. 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.
40. 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.