Page 1006 - Read Online
P. 1006
Kim et al. Hepatoma Res 2020;6:85 I http://dx.doi.org/10.20517/2394-5079.2020.96 Page 9 of 10
total cholesterol and myocardial infarction risk. Nat Genet 2014;46:345-51.
29. Dongiovanni P, Petta S, Maglio C, et al. Transmembrane 6 superfamily member 2 gene variant disentangles nonalcoholic steatohepatitis
from cardiovascular disease. Hepatology 2015;61:506-14.
30. Liu YL, Reeves HL, Burt AD, et al. TM6SF2 rs58542926 influences hepatic fibrosis progression in patients with non-alcoholic fatty liver
disease. Nat Commun 2014;5:1-6.
31. Koo BK, Joo SK, Kim D, et al. Additive effects of PNPLA3 and TM6SF2 on the histological severity of non-alcoholic fatty liver disease.
J Gastroenterol Hepatol 2018;33:1277-85.
32. Wang X, Liu Z, Wang K, et al. Additive effects of the risk alleles of PNPLA3 and TM6SF2 on non-alcoholic fatty liver disease (NAFLD)
in a Chinese population. Front Genet 2016;7:140.
33. Donati B, Dongiovanni P, Romeo S, et al. MBOAT7 rs641738 variant and hepatocellular carcinoma in non-cirrhotic individuals. Sci Rep
2017;7:1-10.
34. Buch S, Stickel F, Trépo E, et al. A genome-wide association study confirms PNPLA3 and identifies TM6SF2 and MBOAT7 as risk loci
for alcohol-related cirrhosis. Nat Genet 2015;47:1443-8.
35. Mancina RM, Dongiovanni P, Petta S, et al. The MBOAT7-TMC4 variant rs641738 increases risk of nonalcoholic fatty liver disease in
individuals of European descent. Gastroenterology 2016;150:1219-30.e6.
36. Valenti L, Alisi A, Nobili V. Unraveling the genetics of fatty liver in obese children: additive effect of P446L GCKR and I148M PNPLA3
polymorphisms. Hepatology 2012;55:661-3.
37. Petta S, Miele L, Bugianesi E, et al. Glucokinase regulatory protein gene polymorphism affects liver fibrosis in non-alcoholic fatty liver
disease. PLoS One 2014;9:e87523.
38. Zain SM, Mohamed Z, Mohamed R. A common variant in the glucokinase regulatory gene rs780094 and risk of nonalcoholic fatty liver
disease: a meta-analysis. J Gastroenterol Hepatol 2015;30:21-7.
39. Rodríguez ML, Silva LF, Vangipurapu J, et al. Functional variant in the GCKR gene affects lactate levels differentially in the fasting state
and during hyperglycemia. Sci Rep 2018;8:1-8.
40. Beer NL, Tribble ND, McCulloch LJ, et al. The P446L variant in GCKR associated with fasting plasma glucose and triglyceride levels
exerts its effect through increased glucokinase activity in liver. Hum Mol Genet 2009;18:4081-8.
41. Anstee QM, Day CP. The genetics of NAFLD. Nat Rev Gastroenterol Hepatol 2013;10:645-55.
42. Sparsø T, Andersen G, Nielsen T, et al. The GCKR rs780094 polymorphism is associated with elevated fasting serum triacylglycerol,
reduced fasting and OGTT-related insulinaemia, and reduced risk of type 2 diabetes. Diabetologia 2008;51:70-5.
43. Onuma H, Tabara Y, Kawamoto R, et al. The GCKR rs780094 polymorphism is associated with susceptibility of type 2 diabetes, reduced
fasting plasma glucose levels, increased triglycerides levels and lower HOMA-IR in Japanese population. J Hum Genet 2010;55:600-4.
44. Abul-Husn NS, Cheng X, Li AH, et al. A protein-truncating HSD17B13 variant and protection from chronic liver disease. N Engl J Med
2018;378:1096-106.
45. Pirola CJ, Garaycoechea M, Flichman D, et al. Splice variant rs72613567 prevents worst histologic outcomes in patients with
nonalcoholic fatty liver disease. J Lipid Res 2019;60:176-85.
46. Ma Y, Belyaeva OV, Brown PM, et al. HSD17B13 is a hepatic retinol dehydrogenase associated with histological features of non-
alcoholic fatty liver disease. Hepatology 2019;69:1504.
47. Ma Y, Belyaeva OV, Brown PM, et al. 17-beta hydroxysteroid dehydrogenase 13 is a hepatic retinol dehydrogenase associated with
histological features of nonalcoholic fatty liver disease. Hepatology 2019;69:1504-19.
48. Haddad TM, Hamdeh S, Kanmanthareddy A, Alla VM. Nonalcoholic fatty liver disease and the risk of clinical cardiovascular events: a
systematic review and meta-analysis. Diabetes Metab Syndr 2017;11:S209-16.
49. Younossi ZM, Stepanova M, Rafiq N, et al. Nonalcoholic steatofibrosis independently predicts mortality in nonalcoholic fatty liver
disease. Hepatol Commun 2017;1:421-8.
50. Targher G, Byrne CD, Lonardo A, Zoppini G, Barbui C. Non-alcoholic fatty liver disease and risk of incident cardiovascular disease: a
meta-analysis. J Hepatol 2016;65:589-600.
51. Liu H, Lu HY. Nonalcoholic fatty liver disease and cardiovascular disease. World J Gastroenterol 2014;20:8407.
52. 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.
53. Simons N, Isaacs A, Koek GH, Kuč S, Schaper NC, Brouwers MCGJ. PNPLA3, TM6SF2, and MBOAT7 genotypes and coronary artery
disease. Gastroenterology 2017;152:912-3.
54. Rüschenbaum S, Schwarzkopf K, Friedrich-Rust M, et al. Patatin-like phospholipase domain containing 3 variants differentially impact
metabolic traits in individuals at high risk for cardiovascular events. Hepatol Commun 2018;2:798-806.
55. Lauridsen BK, Stender S, Kristensen TS, et al. Liver fat content, non-alcoholic fatty liver disease, and ischaemic heart disease: Mendelian
randomization and meta-analysis of 279 013 individuals. Eur Heart J 2017;39:385-93.
56. Posadas-Sánchez R, López-Uribe ÁR, Posadas-Romero C, et al. Association of the I148M/PNPLA3 (rs738409) polymorphism with
premature coronary artery disease, fatty liver, and insulin resistance in type 2 diabetic patients and healthy controls. The GEA study.
Immunobiology 2017;222:960-6.
57. Petta S, Valenti L, Marchesini G, et al. PNPLA3 GG genotype and carotid atherosclerosis in patients with non-alcoholic fatty liver
disease. PLoS One 2013;8:e74089.
58. Pirola CJ, Sookoian S. The dual and opposite role of the TM6SF2-rs58542926 variant in protecting against cardiovascular disease and
conferring risk for nonalcoholic fatty liver: a meta-analysis. Hepatology 2015;62:1742-56.