1 EASL-EASD-EASO: Clinical practice guidelines for the management of non-alcoholic fatty liver disease. J Hepatol 2016;64:1388–402.
2 Chalasani N, Younossi Z, Lavine JE, Diel AM et al. The diagnosis and management of non-alcoholic fatty liver disease: Practice guideline by the American Association for the Study of Liver Diseases, American College of Gastroenterology, and the American Gastroenterological Association. Hepatology. 2012;55:2005–23.
3 Younossi ZM, Koenig AB, Abdelatif D, et al. Global epidemiology of non-alcoholic fatty liver disease-meta-analytic assessment of prevalence, incidence and outcome. Hepatology. 2016;64:73–84.
4 Kneeman JM, Misdraji J, Corey KE. Secondary causes of non-alcoholic fatty liver disease. Therap Adv Gastroenterol. 2012;5:199–207.
5 Mandayan S, Janal MM, Morgan TR. Epidemiology of alcoholic liver disease. Semin Liver Dis. 2004;24:217–32.
6 Stickel F, Moreno C, Hampe J, Morgan MY. The genetics of alcohol dependence and alcohol-related liver disease. J Hepatol. 2017;66:195–211.
7 Schindhelm RK, Diamant M, Dekker et al. Alanine amiotransferase as a marker on non-alcoholic fatty liver disease in relation to type 2 diabetes mellitus and cardiovascular disease. Diabetes Metab Res Rev. 2006;22:437–43.
8 Gambino G, Cassader M, Pagano G. Meta-analysis: natural history of non-alcoholic fatty liver disease (NAFLD) and diagnostic accuracy of non-invasive tests for liver disease severity. Annals of Medicine. 2011;43:617–49.
9 Friedrich-Rust M, Rosenberg W, Parkes R et al. Comparison of ELF, FibroTest und FibroScan for the non-invasive assessment of liver fibrosis. BMC Gastroenterol. 2010;10:103–11.
10 Kleiner DF, Brunt EM, Van Natta M et al. Design and validation of a histological scoring system for non-alcoholic fatty liver disease. Hepatology. 2005;41:1313–21.
11 Bedossa P, Poitou C, Veyrie N et al. Histopathological algorithm and scoring system for evaluation of liver lesions in morbidly obese patients. Hepatology. 2012;56:1751–9.
12 Ratziu V, Bellentani S, Cortez-Pinto H et al. A position statement on NAFLD/NASH based on EASI, 2009 special conference. J Hepatol. 2010;53:372–84.
13 Bugianesi E, Leone N, Vanni E et al. Expanding the natural history of non-alcoholic steatohepatitis from cryptogenic cirrhosis to hepatocellular carcinoma. Gastroenterology. 2002;123:134–40.
14 Lee J, Hegele RA: Abetalipoproteinemia and homozygous hypobetalipoproteinemia: a framework for diagnosis and management. J Inherited Metabol Dis. 2014;37:333–9.
15 Linton MF, Farese RJ, Young SG. Familial hypobetalipoproteinemia. J Lipid Res. 1993;34:521–41.
16 Rubenfire M, Brook RD, Rosenson RS. Treating mixed hyperlipidemia and artherogenic lipid phenotype for prevention of cardiovascular events. Am J Med. 2010;123:892–8.
17 Muraca M, Gerunda G, Neri D, Vilei MT et al. Hepatocyte transplantation as a treatment for glycogen storage disease type 1a. Lancet. 2002;359:317–18.
18 Herranz P, de Lucas R, Pérez-Espana L, Mayor M. Lipodystrophy syndromes. Dermatol Clin. 2008;26:569–78.
19 Oral EA, Simha V, Ruir E, Andewelt A, Premkumar A et al. Leptin-replacement therapy for lipodystrophy. N Engl J Med. 2002;346:570–8.
20 Anderson RA, Bryson GM, Pails JS. Lyosomal acid lipase mutations that determine phenotype in Wolman and cholesterolester storage disease. Mol Genet Metabol 1999;68:333–75.
21 Takagi H, Hagiwara S, Hashizume H, Kanda D, Sato K, Sohara N et al. Adult onset type II citrulliniemia as a cause of non-alcoholic steatohepatitis. J Hepatol. 2006;44:236–9.
22 Burkhead JL, Gray LW, Lusenko S: Systems biology approach to Wilson’s disease. Biometals. 2011;24:455–66.
23 Romeo S, Kozlitina J, Xing C, Pertsemlidis A, et al. Genetic variation in PNPLA3 confers susceptibility to nonalcoholic fatty liver disease. Nat Genet. 2008;40:1461–5.
24 Dongiovanni P, Donati P, Fares R et al. PNPLA3 I48M-polymorphism and progressiv liver disease. World J Gastroenterol. 2013;19:6969–78.
25 Oniki K, Saruwatari J, Izuka T, Kajiwara A et al. Influence of the PNPLA3 rs738409 polymorphism on non-alkoholic fatty liver disease and renal function among normal weight subjects. PLOS ONE. 2015;10:e0132640.
26 Valenti L, Alisi A, Galmozzi E, et al. I148M PNPLA3 variant progressive liver disease: a new paradigma in hepatology. Hepatology. 2012;56:1883–9.
27 Stickel F, Buch S, Lau K, Meyer zu Schwabedissen H, Berg T, Rüdinger M, et al. Genetic variation in the PNPLA3 gene is associated with alcoholic liver injury in caucasians. Hepatology. 2011;53:86–95.
28 Tian C, Stokowski RP, Kershenobich D, Billinger DC, Hints DA. Variant in PNPLA3 is associated with alcoholic liver disease. Nat Genet. 2010;42:21–3.
29 Salameh H, Raff E, Erwin A et al. PNPLA3 gene polymorphism is associated with predisposition to and severity of alcoholic liver disease. Am J Gastroenterol. 2015;110:846–56.
30 Falleti E, Fabris C, Cmet S et al. PNPLA3 rs738409C/G polymorphism in cirrhosis: relationship with aetiology of liver disease and hepatocellular carcinoma occurrence. Liver International. 2011;31,1137–43.
31 Sookoian S, Castano GO, Burgueno AL et al. A nonsynonymous gene variant in the adiponutrin gene is associated with nonalkoholic fatty liver disease severity. J Lipid Res. 2009;50:2111–6.
32 Mangge H, Baumgartner BG, Zelzer S, Prüller F, Schnedl WJ, et al. Patatin-like phospholipase 3 (rs738409) gene polymorphism is associated with increased liver enzymes in obese adolescents and metabolic syndrome in all ages. Alimentary Pharmacology & Therapeutics. 2015;42:99–105.
33 Krawczyk M, Stokes CS, Romeo S, Lammert F. HCC and liver disease risks in homozygous PNPLA3 p.I148M carriers approach monogenic inheritance. J Hepatol. 2015;62:980–1.
34 Kozlitina J, Smagris E, Stender S et al. Exome-wide association study identifies a TM6SF2 variant that confers susceptibility to non-alcoholic fatty liver disease. Nat Genet. 2014;46:352–6.
35 Liu YL, Reeves AL, Burt AD, et al. TM6SF2rs58542926 influences hepatic fibrosis progression in patients with non-alcoholic fatty liver disease. Nature communications. 2014;
DOI:10.1038/ncomms5309.
36 Anstee QM, Day CP. The genetics of non-alcoholic fatty liver disease: Spotlight on PNPLA3 and TM6SF2. Semin Liver Dis. 2015;35:270–90.
37 Ko HH, Yoshida E. Acute fatty liver of pregnancy. Can J Gastroenterol. 2006;20:25–30.
38 Belling LL. Maternal acute fatty liver of pregnancy and the associated risk for long-chain 3-hydroxylacyl-coenzyme a dehydrogenase (LCHAD) deficiency in infants. Adv Neonatal Care. 2004;4:26–32.
39 Teil N. Metabolic disease in the fetus predisposes to maternal hepatic complications of pregnancy. Pediatr Res. 2000;47:6–8.
40 Wanders RJ, Vreken P, den Boer ME, Wijburg FA, van Gennip AL, Jls L. Disorders of mitochondrial fatty acyl-CoA beta oxidation. J Inherit Metab Dis. 1999;22:442–87.
41 Byrne CD, Targher G: NAFLD: A multisystem disease. J Hepatology. 2015;62:47–64.
42 Willner IR, Waters B, Patil SR, Reuben A, Morelli J, Reily CA. Nienty patients with nonalcoholic steatohepatitis: insulin resistance, familial tendency and severity of disease. Am J Gastroenterol. 2001;96:2957–61.
43 Struben V, Hespenheide EE, Caldwell SH. Nonalcoholic steatohepatitis and cyptogenic cirrhosis within kindreds. Am J Med. 2000;108: 9–13.
44 Makkonen J, Pietiläinen KH, Rissanen A et al. Genetic factors contribute to variation in serum alanine aminotransferase activity independent of obesity and alcohol: a study in monozygotic and dizygotic twins. J Hepatol. 2009;50:1035–42.
45 Loomba R, Schork N, Chen CH et al. Heritability of hepatic fibrosis and steatosis based on a prospective twin study. Gastroenterology. 2015;149:1784–93.
46 Misra A, Misra R. Asian Indians and insulin resistance syndrome: global perspective. Metab Syndr Relat Disord. 2003;1:277–85.
47 Browning JD, Kumar KS, Saboorin MH; Thiele DL: Ethnic differences in the prevalence of cryptogenic cirrhosis. Am J Gastrol. 2004;99:292–8.
48 Petersen KF, Dufour S, Feng J, Befroy D et al. Increased prevalence of insulin resistance and nonalcoholic fatty liver disease in Asian-Indian men. Proc Natl Acad Sci USA. 2006;103:18273–7.
49 Guerrero R, Vega GL, Grundy SM, Browning JD. Ethnic differences in hepatic steatosis: an insulin resistance paradox? Hepatology. 2009;49:791–801.
50 Wagenknecht LE, Scherzinger AL, Stamm ER, et al. Correlates and heritability of nonalcoholic fatty liver disease in a minority cohort. Obesity (Silver Spring). 2009;17:1240–6.
51 Schwimmer JB, Celedon MA, Lavine JE, et al. Heritability of nonalcoholic fatty liver disease. Gastroenterology 2009;136:1585–92
52 Sookoian S, Pirola CJ. Genetic predisposition in nonalcoholic fatty liver disease. Clinical and Molecular Hepatology. 2017;23;1–12.
53 Sookoian S, Pirola CJ. Non-alcoholic fatty liver disease and metabolic syndrome: Shared genetic basis of pathogenesis. Hepatology 2016;64:1417–20.
54 Brown MS, Goldstein JL. Selective versus total insulin resistance: A pathogenic paradox. Cell Metab. 2008;7:95–6.
55 Anstee QM, Targher G, Day CP. Progression of NAFLD to diabetes mellitus, cardiovascular disease or cirrhosis. Nat Rev Gastroenterol Hepatol. 2013;10:330–44.
56 Musso G, Cambino R, Tabibian JH, Ekstedt M, Kechagias S, Hamaguchi M, et al. Association of non-alcoholic fatty liver disease with chronic kidney disease: a systematic review and meta-analysis. PLoS Med. 2014;11:e10011680.
57 Francque SM, van der Graaff D, Kwanten WJ. Non-alcoholic fatty liver disease and cardiovascular risk: Pathophysiological mechanisms and implications. J Hepatol. 2016;65:425–43.
58 Sinn DH, Kang D, Jang HR, et al. Development of chronic kidney disease in patients with non-alcoholic fatty liver disease: A cohort study. J Hepatol. 2017;67:1274–80.
59 Fusillo S, Rudoph B. Nonalcoholic fatty liver disease. Pediatrics in Review. 2015;36:198–206.
60 Speliotes FK, Yerges-Armstrong LM, Wu J, Hernaez R, et al. Genome-wide association analysis identifies variants associated with non-alcoholic fatty liver disease that have distinct effects on metabolic traits. PloS Genet. 2011;7:e1001324.
61 Cirulli ET, Goldstein DB. Uncovering the roles of rare variants in common disease. N Engl J Med. 2010;11:415–25.
62 Hardy J, Singleton A. Genome wide association studies and human disease. N Engl J Med. 2009;360:1759–68.
63 Wood KL, Miller MH, Dillon JF. Systematic review of genetic association studies involving histologically confirmed non-alcoholic fatty liver disease. BMJ Open Gastro. 2015;2:e000019.
64 Dongiovanni P, Romeo S, Valenti L. Genetic factors in the pathogenesis of non-alcoholic fatty liver and steatohepatitis. BioMed Research International. 2015;e46019043.
65 Anstee QM, Daly AK, Day CP. Genetic modifiers of non-alcoholic fatty liver disease progression. Biochemica et Biophysica Acta. 2011;1812:1557–66.
66 Gordon A, Yang R, Yerges-Armstrong LM, Ryan KA, et al. Genetic variation at NCAN locus associated with inflammation and fibrosis in non-alcoholic fatty liver disease in morbid obesity. Hum Hered. 2013;75:34–43.
67 Macaluso FS, Maida M, Petta S. Genetic background in nonalcoholic fatty liver disease: A comprehensive review. World J Gastroenterol. 2015;21:11088–111.
68 Donati B, Dongiovanni P, Romeo S, et al. MBOAT7 rs641738 variant and hepatocellular carcinoma in non-cirrhotic individuals. Sci Rep. 2017;7:4492.
69 Guri Y, Colombi M, Dazert E, et al. mTORC2 promotes tumorigenesis via lipid synthesis. Cancer Cell. 2017;
doi:1o.1016/j.ccell 2017.11.011.
70 McGowan CE, Jones P, Long MD, Barritt AS. The changing shape of disease: Non-alcoholic fatty liver disease in Crohn’s disease. A case series and review of the literature. Inflamm Bowel Dis. 2012;18:49–54.
71 Eslam M, Valenti L, Romeo S. Genetic and epigenetics of NAFLD and NASH: Clinical impact. J Hepatol. 2017 doi.org/10.1016/j.hep.2017,09.2003.
72 Miyaaki H, Nakao K. Significance of genetic polymorphisms in patients with non-alcoholic fatty liver disease. Clin J Gastroenterol. 2017;10:201–7.
73 Melum E, Franke A, Karlsen T. Genome-wide association studies – A survey for clinical gastroenterologists. World J Gatroenterol. 2009;15:5377–96.
74 Ryaboshapkina M, Hammar M. Human hepatic gene expression signature of non-alcoholic fatty liver disease progression, a meta-analysis. Scientific Reports. 2017;7:12361/doi.10.1038/s41598-017-10930-w.
75 Stender S, Kozlitina J, Nordestgaard BG, et al. Adiposity amplifies the genetic risk of fatty liver disease conferred by multiple loci. Nature Genetics. 2017;49:842–7
76 Zimmer V, Lammert F. Genetics and epigenetics in the fibrogenic evolution of chronic liver disease. Best Pract Res Clin Gastroenterol. 2011;25:269–80.
77 Lee JH, Kim Y, Friso S, Choi SW. Epigenetics in non-alcoholic fatty liver disease. Molecular Aspects of Medicine. 2017;54:78–88.
78 Cordero P, Campion J,Milagro FI, Martinez JA. Transcriptomic and epigenetic changes in early liver steatosis associated to obesity: Effect of dietary methyl donor supplementation. Mol Genet Metab. 2013;110:388–95.
79 Lee JH, Friso S, Choi SW. Epigenetic mechanisms underlying the link between non-alcoholic fatty liver disease and nutrition. Nutrients. 2014;6:3303–25.
80 Tian Y, Wong VW, Chan HL, Cheng AS. Epigenetic regulation of hepatocellular carcinoma in non-alcoholic fatty liver disease. Seminars in Cancer Biology. 2013;23:471–82.
81 Sun C, Fan JG, Qiao L. Potential epigenetic mechanism in non-alcoholic fatty liver disease. Int J Mol Sci. 2015;16:5161–79.
82 Yu J, Marsh S, Hu J, et al. The pathogenesis of nonalcoholic fatty liver disease: Interplay between diet, gut microbiota, and genetic background. Gastroenterology Research and Practice 2016.
83 Leung C, Rivera L, Furness JB, Angus PW: The role of gut microbiota in NAFLD. Nature Reviews Gastroenterology & Hepatology. 2016;13:412–25.
84 Yu J, Marsh S, Hu J, et al. The pathogenesis of non-alcoholic fatty liver disease: interplay between diet, gut microbiota, and genetic background. Gastroenterol Res Pract. 2016;2862173;
doi 10.1155/2016/2862173.
85 Abu-Shanab A, Quigley EM. The role of the gut microbiota in non-alcoholic fatty liver disease. Nature Reviews Gastroenerology & Hepatology. 2010;71:691–701.
86 Le Roy T, Llopis M, Lepage P, et al. Intestinal microbiota determines development of non-alcoholic fatty liver diesease in Mice. Gut. 2013;62:1787–94.
87 Ussar N, Griffin W, Bezy O, et al. Interactions between gut microbiota, host genetics and diet modulate the predisposition to obesity and metabolic syndrome. Cell Metabolism. 2015;22:536–530.
88 Houghton D, Stewart CJ, Day CP, Trenell M. Gut microbiota and lifestyle interventions in NAFLD. In J Mol Sci. 2016;17:447–76