Genetics of Nonalcoholic Fatty Liver Disease: An Overview

Journal of Genetics and Genomics

Volumn 40, Issue 1, 2013, Pages 15-22

  Puppala, Jharna ^a   Siddapuram, Siva Prasad ^b   Akka, Jyothy ^a   Munshi, Anjana ^a  

^a OSMANIA UNIVERSITY   (India)

^b ASIAN INSTITUTE OF GASTROENTEROLOGY   (India)

Author keywords

Genetic factors; Nonalcoholic fatty liver disease; Obesity; Type 2 diabetes

Indexed keywords

ADIPONECTIN; ALANINE AMINOTRANSFERASE; APOLIPOPROTEIN A; APOLIPOPROTEIN A4; APOLIPOPROTEIN C3; ARGININE; BETA 3 ADRENERGIC RECEPTOR; CD36 ANTIGEN; CYTOKERATIN 18; GLUCOKINASE; GLUCOSE; INTERLEUKIN 10; INTERLEUKIN 1BETA; INTERLEUKIN 6; MANGANESE SUPEROXIDE DISMUTASE; PHOSPHATIDYLETHANOLAMINE METHYLTRANSFERASE; PROTEIN BCL 2; TRANSFORMING GROWTH FACTOR BETA1; TRIACYLGLYCEROL; TRIACYLGLYCEROL LIPASE; TUMOR NECROSIS FACTOR ALPHA; VERY LOW DENSITY LIPOPROTEIN;

AFRICAN AMERICAN; ALANINE AMINOTRANSFERASE BLOOD LEVEL; APOPTOSIS; DIETARY INTAKE; DISEASE ASSOCIATION; ENERGY EXPENDITURE; ENVIRONMENTAL FACTOR; ENZYME ACTIVITY; ETHNICITY; GENE EXPRESSION; GENE FREQUENCY; GENETIC ASSOCIATION; GENETIC PREDISPOSITION; GENETIC VARIABILITY; GENOTYPE; GLUCOSE BLOOD LEVEL; GLUCOSE METABOLISM; HEREDITY; HISPANIC; HOMOZYGOTE; HUMAN; HYPERTENSION; HYPERTRIGLYCERIDEMIA; IMMUNE RESPONSE; INFLAMMATION; INSULIN SENSITIVITY; LIPID PEROXIDATION; LIPID STORAGE; LIVER BIOPSY; LIVER CIRRHOSIS; NON INSULIN DEPENDENT DIABETES MELLITUS; NONALCOHOLIC FATTY LIVER DISEASE ACTIVITY SCORE; NONHUMAN; OBESITY; OXIDATIVE STRESS; PREVALENCE; PROTEIN BLOOD LEVEL; REVIEW; SINGLE NUCLEOTIDE POLYMORPHISM; TRIACYLGLYCEROL BLOOD LEVEL;

FATTY LIVER; GENETIC VARIATION; HUMANS; RISK FACTORS;

EID: 84873059432     PISSN: 16738527     EISSN: 18735533     Source Type: Journal    
DOI: 10.1016/j.jgg.2012.12.001     Document Type: Review

References (71)

1. Adams L.A., Angulo P. Treatment of non-alcoholic fatty liver disease. Postgrad. Med. J. 2006, 82:315-322.
2. Adhikari K.B., Tirosh O. Non-alcoholic fatty liver disease (NAFLD) and immune response. J. Inst. Med. 2010, 32:43-53.
3. Amarapurkar D.N., Hashimoto E., Lesmana L.A., Sollano J.D., Chen P.J., Goh K.L. How common is nonalcoholic fatty liver disease in the Asia-Pacific region and are there local differences. J. Gastroenterol. Hepatol. 2007, 22:788-793. Asia-Pacific Working Party on NAFLD.
4. Annoni G., Weiner F.R., Zern M.A. Increased transforming growth factor-β 1 gene expression in human liver disease. J. Hepatol. 1992, 14:259-264.
5. Bernard S., Touzet S., Personne I., Lapras V., Bondon P.J., Berthezene F., Moulin P. Association between microsomal triglyceride transfer protein gene polymorphism and the biological features of liver steatosis in patients with type II diabetes. Diabetologia 2000, 43:995-999.
6. Bonkovsky H.L., Jawaid Q., Tortorelli K., LeClair P., Cobb J., Lambrecht R.W., Banner B.F. Non-alcoholic steatohepatitis and iron: increased prevalence of mutations of the HFE gene in nonalcoholic steatohepatitis. J. Hepatol. 1999, 31:421-429.
7. Braunersreuther V., Viviani G.L., Mach F., Montecucco F. Role of cytokines and chemokines in non-alcoholic fatty liver disease. World J. Gastroenterol. 2012, 18:727-735.
8. Browning J.D., Kumar K.S., Saboorian M.H., Thiele D.L. Ethnic differences in the prevalence of cryptogenic cirrhosis. Am. J. Gastroenterol. 2004, 99:292-298.
9. Bugianesi E., Leone N., Vanni E., Marchesini G., Brunello F., Carucci P., Musso A., De Paolis P., Capussotti L., Salizzoni M., Rizzetto M. Expanding the natural history of nonalcoholic steatohepatitis: from cryptogenic cirrhosis to hepatocellular carcinoma. Gastroenterology 2002, 123:134-140.
10. Chalasani N., Younossi Z., Lavine J.E., Diehl A.M., Brunt E.M., Cusi K., Charlton M., Sanyal A.J. 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, 55:2005-2023.
11. Chávez-Tapia N.N., Uribe M., Ponciano-Rodríguez G., Medina-Santillán R., Méndez-Sánchez N. New insights into the pathophysiology of nonalcoholic fatty liver disease. Ann. Hepatol. 2009, 8:S9-S17.
12. Cheung O., Sanyal A.J. Recent advances in nonalcoholic fatty liver disease. Curr. Opin. Gastroenterol. 2010, 26:202-208.
13. Chitturi S., Weltman M., Farrell G.C., McDonald D., Kench J., Liddle C., Samarasinghe D., Lin R., Abeygunasekera S., George J. HFE mutations, hepatic iron, and fibrosis: ethnic-specific association of NASH with C282Y but not with fibrotic severity. Hepatology 2002, 36:142-149.
14. Cintra D.E., Pauli J.R., Araujo E.P., Moraes J.C., de Souza C.T., Milanski M., Morari J., Gambero A., Saad M.J., Velloso L.A. Interleukin-10 is a protective factor against diet-induced insulin resistance in liver. J. Hepatol. 2008, 48:628-637.
15. Clark J.M., Diehl A.M. Nonalcoholic fatty liver disease: an underrecognized cause of cryptogenic cirrhosis. JAMA 2003, 289:3000-3004.
16. Das S.K., Mukherjee S., Vasudevan D.M. Non-alcoholic fatty liver disease: an under recognized cause with emerging importance. Curr. Sci. India 2006, 90:659-665.
17. Day C.P. Pathogenesis of steatohepatitis. Best Pract. Res. Clin. Gastroenterol. 2002, 16:663-678.
18. Day C.P., James O. Steatohepatitis: a tale of two hits. Gastroenterology 1998, 114:842-845.
19. Day C.P. Genes or environment to determine alcoholic liver disease and non- alcoholic fatty liver disease. Liver Int. 2006, 26:1021-1028.
20. Deguti M.M., Sipahi A.M., Gayotto L.C., Palacios S.A., Bittencourt P.L., Goldberg A.C., Laudanna A.A., Carrilho F.J., Cancado E.L. Lack of evidence for the pathogenic role of iron and HFE gene mutations in Brazilian patients with nonalcoholic steatohepatitis. Braz. J. Med. Biol. Res. 2003, 36:739-745.
21. Den Boer M.A., Voshol P.J., Schrodervan der Elst J.P., Korsheninnikova E., Ouwens D.M., Kuipers F., Havekes L.M., Romijn J.A. Endogenous interleukin-10 protects against hepatic steatosis but does not improve insulin sensitivity during high-fat feeding in mice. Endocrinology 2006, 147:4553-4558.
22. Donnelly K.L., Smith C.I., Schwarzenberg S.J., Jessurun J., Boldt M.D., Parks E.J. Sources of fatty acids stored in liver and secreted via lipoproteins in patients with nonalcoholic fatty liver disease. J. Clin. Invest. 2005, 115:1343-1351.
23. Douglas H.E. TGF- β in wound healing: a review. J. Wound Care 2010, 19:403-406.
24. Dowman J.K., Tomlinson M.J.W., Newsome P.N. Pathogenesis of non-alcoholic fatty liver disease. QJM-Int. J. Med. 2010, 103:71-83.
25. Duseja A. Nonalcoholic fatty liver disease in India - is it different?. Trop. Gastroenterol. 2006, 27:142-146.
26. Duseja A. Nonalcoholic fatty liver disease in India - a lot done, yet more required!. Indian J. Gastroenterol. 2010, 29:217-225.
27. Duseja A., Aggarwal R. APOC3 and PNPLA3 in non-alcoholic fatty liver disease: need to clear the air. J. Gastroenterol. Hepatol. 2012, 27:951-956.
28. Duvnjak M., Ivan L., Neven B., Vedran T., Lucija V.J., Vedran V. Pathogenesis and management issues for non-alcoholic fatty liver disease. World J. Gastroenterol. 2007, 13:4539-4550.
29. George D.K., Goldwurm S., MacDonald G.A., Cowley L.L., Walker N.I., Ward P.J., Jazwinska E.C., Powell L.W. Increased hepatic iron concentration in nonalcoholic steatohepatitis is associated with increased fibrosis. Gastroenterology 1998, 114:311-318.
30. Grundy S.M. Metabolic syndrome pandemic. Arterioscl. Throm. Vas. 2008, 28:629-636.
31. Hara K., Horikoshi M., Yamauchi T., Yago H., Miyazaki O., Ebinuma H., Imai Y. Measurement of the high-molecular weight form of adiponectin in plasma is useful for the prediction of insulin resistance and metabolic syndrome. Diabetes Care 2006, 29:1357-1362.
32. Haukeland J.W., Damas J.K., Konopski Z., Loberg E.M., Haaland T., Goverud I., Torjesen P.A., Birkeland K., Bjoro K., Aukrust P. Systemic inflammation in nonalcoholic fatty liver disease is characterized by elevated levels of CCL2. J. Hepatol. 2006, 44:1167-1174.
33. Hui J.M., Hodge A., Farrell G.C., Kench J.G., Kriketos A., George J. Beyond insulin resistance in NASH: TNF-α or adiponectin. Hepatology 2004, 40:46-54.
34. Iwamoto N., Ogawa Y., Kajihara S., Hisatomi A., Yasutake T., Yoshimura T., Mizuta T., Hara T., Ozaki I., Yamamoto K. Gln27Glu β2-adrenergic receptor variant is associated with hypertriglyceridemia and the development of fatty liver. Clin. Chem. Acta 2001, 314:85-91.
35. Jimba S., Nakagami T., Takahashi M., Wakamatsu T., Hirota Y., Iwamoto Y., Wasada T. Prevalence of non-alcoholic fatty liver disease and its association with impaired glucose metabolism in Japanese adults. Diabet. Med. 2005, 22:1141-1145.
36. Kumashiro N., Erion D.M., Zhang D., Kahn M., Beddow S.A., Chu X., Still C.D., Gerhard G.S., Han X., Dziura J., Petersen K.F., Samuel V.T., Shulman G.I. Cellular mechanism of insulin resistance in nonalcoholic fatty liver disease. Proc. Natl. Acad. Sci. USA 2011, 108:16381-16385.
37. Lesmana C.R., Hasan I., Budihusodo U., Gani R.A., Krisnuhoni E., Akbar N., Lesmana L.A. Diagnostic value of a group of biochemical markers of liver fibrosis in patients with non-alcoholic steatohepatitis. J. Digest. Dis. 2009, 10:201-206.
38. Mehmet C., Haldun S., Uur Y. A new risk factor for the development of non-alcoholic fatty liver disease: HLA complex genes. Turk. J. Gastroenterol. 2011, 22:395-399.
39. Mensink R.P., Plat J., Schrauwen P. Diet and nonalcoholic fatty liver disease. Curr. Opin. Lipidol. 2007, 19:25-29.
40. Miele L., Grieco A., Armuzzi A. Hepatic mitochondrial β-oxidation in patients with non-alcoholic steatohepatitis assessed by 13C-octanoate breath test. Am. J. Gastroenterol. 2003, 98:2235-2246.
41. Misra A., Misra R. Asian Indians and insulin resistance syndrome: global perspective. Metab. Syndr. Relat. Disord. 2003, 1:277-283.
42. Montecucco F., Mach F. Does non-alcoholic fatty liver disease (NAFLD) increase cardiovascular risk?. Endocr. Metab. Immune Disord. Drug Targets 2008, 8:301-307.
43. Musso G., Gambino R., De M.F. Dietary habits and their relations to insulin resistance and postprandial lipemia in nonalcoholic steatohepatitis. Hepatology 2003, 37:909-916.
44. Namikawa C.M., Shu-Ping Z., Vyselaar J.R., Nozaki Y., Nemoto Y., Ono M., Akisawa N., Saibara T., Hiroi M., Enzan H., Onishi S. Polymorphisms of microsomal triglyceride transfer protein gene and manganese superoxide dismutase gene in non-alcoholic steatohepatitis. J. Hepatol. 2004, 40:781-786.
45. Niswender K.D., Shiota M., Postic C., Cherrington A.D., Magnuson M.A. Effects of increased glucokinase gene copy number on glucose homeostasis and hepatic glucose metabolism. J. Biol. Chem. 1997, 272:22570-22575.
46. Nozaki Y., Saibara T., Nemoto Y., Ono M., Akisawa N., Iwasaki S., Hayashi Y., Hiroi M., Enzan H., Onishi S. Polymorphisms of interleukin-1 β and β 3-adrenergic receptor in Japanese patients with nonalcoholic steatohepatitis. Alcohol. Clin. Exp. Res. 2004, 28:106-110.
47. Osterreicher C.H., Brenner D.A. The genetics of nonalcoholic fatty liver disease. Ann. Hepatol. 2007, 6:83-88.
48. Osterreicher C.H., Stickel F., Brenner D.A. Genomics of liver fibrosis and cirrhosis. Semin. Liver Dis. 2007, 27:28-43.
49. Pajvani U.B., Du X., Combs T.P., Berg A.H., Rajala M.W., Schulthess T., Engel J. Structure-function studies of the adipocyte-secreted hormone Acrp30/adiponectin. Implications for metabolic regulation and bioactivity. J. Biol. Chem. 2003, 278:9073-9085.
50. Petersen K.F., Dufour S., Feng J. Increased prevalence of insulin resistance and nonalcoholic fatty liver disease in Asian-Indian men. Proc. Natl. Acad. Sci. USA 2006, 103:18273-18277.
51. Petersen K.F., Dufour S., Hariri A., Nelson-Williams C., Foo J.N., Zhang X.M., Dziura J., Lifton R.P., Shulman G.I. Apolipoprotein C3 gene variants in nonalcoholic fatty liver disease. N. Engl. J. Med. 2010, 362:1082-1089.
52. Ramalho R.M., Cortez-Pinto H., Castro R.E., Sola S., Costa A., Moura M.C., Camilo M.E. Apoptosis and Bcl-2 expression in the livers of patients with steatohepatitis. Eur. J. Gastroenterol. Hepatol. 2006, 18:21-29.
53. Sanyal A.J., Campbell S.C., Mirshahi F. Non-alcoholic steatohepatitis: association of insulin resistance and mitochondrial abnormalities. Gastroenterology 2001, 120:1183-1192.
54. Savage D.B., Semple R.K. Recent insights into fatty liver, metabolic dyslipidaemia and their links to insulin resistance. Curr. Opin. Lipidol. 2010, 21:329-336.
55. Schwimmer J.B., Celedon M.A., Lavine J.E., Salem R., Campbell N., Schork N.J., Shiehmorteza M., Yokoo T., Chavez A., Middleton M.S., Sirlin C.B. Heritability of nonalcoholic fatty liver disease. Gastroenterology 2009, 136:1585-1592.
56. Shek F.W., Benyon R.C. How can transforming growth factor β be targeted usefully to combat liver fibrosis. Eur. J. Gastroenterol. Hepatol. 2004, 16:123-126.
57. Song J., da Costa K.A., Fischer L.M., Kohlmeier M., Kwock L., Wang S., Zeisel S.H. Polymorphism of the PEMT gene and susceptibility to nonalcoholic fatty liver disease (NAFLD). FASEB J. 2005, 19:1266-1271.
58. Sookoian S., Pirola C.J. 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, 53:1883-1894.
59. Sotirios K.Karathanasis, Oettgen Peter, Haddad Issam A., Antonarakist Stylianos E. Structure, evolution, and polymorphisms of the human apolipoprotein A4 gene (APOA4). Proc. Natl. Acad. Sci. USA 1986, 83:8457-8461.
60. Starkel P., Sempoux C., Leclercq I., Herin M., Deby C., Desager J.P., Horsmans Y. Oxidative stress, KLF6 and transforming growth factor-β up-regulation differentiate non-alcoholic steatohepatitis progressing to fibrosis from uncomplicated steatosis in rats. J. Hepatol. 2003, 39:538-546.
61. Struben V., Hespenheide E.E., Caldwell S.H. Nonalcoholic steatohepatitis and cryptogenic cirrhosis within kindreds. Am. J. Med. 2000, 108:9-13.
62. Syn W.K., Choi S.S., Diehl A.M. Apoptosis and cytokines in non-alcoholic steatohepatitis. Clin. Liver Dis. 2009, 13:565-580.
63. Tarantino G., Savastano S., Colao A. Hepatic steatosis, low-grade chronic inflammation and hormone/growth factor/adipokine imbalance. World J. Gastroenterol. 2010, 16:4773-4783.
64. Tilg H., Diehl A.M. Cytokines in alcoholic and nonalcoholic steatohepatitis. N. Engl. J. Med. 2000, 343:1467-1476.
65. Valenti L., AlSerri A., Daly A.K. Homozygosity for the patatin-like phospholipase-3/adiponutrin I148M polymorphism influences liver fibrosis in patients with nonalcoholic fatty liver disease. Hepatology 2010, 51:1209-1217.
66. Wanless I.R., Lentz J.S. Fatty liver hepatitis (steatohepatitis) and obesity: an autopsy study with analysis of risk factors. Hepatology 1990, 12:1106-1110.
67. Wieckowska A., Papouchado B.G., Li Z., Lopez R., Zein N.N., Feldstein A.E. Increased hepatic and circulating interleukin-6 levels in human nonalcoholic steatohepatitis. Am. J. Gastroenterol. 2008, 103:1372-1379.
68. Williams C.D., Stengel J., Asike M.I., Torres D.M., Shaw J., Contreras M. Prevalence of nonalcoholic fatty liver disease and nonalcoholic steatohepatitis among a largely middle-aged population utilizing ultrasound and liver biopsy: a prospective study. Gastroenterology 2011, 140:124-131.
69. Willner I.R., Waters B., Patil S.R., Reuben A., Morelli J., Reily C.A. Ninety patients with nonalcoholic steatohepatitis: insulin resistance, familial tendency, and severity of disease. Am. J. Gastroenterol. 2001, 96:2957-2961.
70. Younossi Z.M., Stepanova M., Afendy M., Fang Y., Younossi Y., Mir H. Changes in the prevalence of the most common causes of chronic liver diseases in the United States from 1988 to 2008. Clin. Gastroenterol. Hepatol. 2011, 9:524-530.
71. Zhu L., Baker S.S., Liu W., Tao M.H., Patel R., Nowak N.J., Baker R.D. Lipid in the livers of adolescents with nonalcoholic steatohepatitis: combined effects of pathways on steatosis. Metabolism. 2011, 60:1001-1011.