Genetics of Nonalcoholic Fatty Liver Disease: A 2018 Update

被引：35

作者：

Valenti, Luca V. C. ^{[1
]}

Baselli, Guido A. ^{[1
]}

机构：

[1] Univ Milan, Internal Med & Metab Dis, Fdn IRCCS Ca Granda Osped Maggiore Policlin, Dept Pathophysiol & Transplantat, Milan, Italy

来源：

CURRENT PHARMACEUTICAL DESIGN | 2018年 / 24卷 / 38期

关键词：

Cirrhosis; fibrosis of the liver; genetics; hepatocellular carcinoma; nonalcoholic fatty liver disease; nonalcoholic steatohepatitis; steatosis; CHRONIC HEPATITIS-B; HEPATOCELLULAR-CARCINOMA; I148M POLYMORPHISM; NATURAL-HISTORY; CONFERS SUSCEPTIBILITY; WIDE ASSOCIATION; FIBROSIS STAGE; INCREASED RISK; FOLLOW-UP; PNPLA3;

D O I：

10.2174/1381612825666190119113836

中图分类号：

R9 [药学];

学科分类号：

1007 ;

摘要：

Nonalcoholic fatty liver disease (NAFLD), now the leading cause of liver damage worldwide, is epidemiologically associated with obesity, insulin resistance and type 2 diabetes, and is a potentially progressive condition to advanced liver fibrosis and hepatocellular carcinoma. However, there is huge interindividual variability in liver disease susceptibility. Inherited factors also play an important role in determining disease predisposition. During the last years, common variants in PNPLA3, TM6SF2, MBOAT7 and GCKR have been demonstrated to predispose to the full spectrum of NAFLD pathology by facilitating hepatic fat accumulation in the presence of environmental triggers. Other variants regulating inflammation and fibrogenesis then modulate liver disease progression in those at higher risk. Evidence is also accumulating that rare variants are involved in disease predisposition. In the future, evaluation of genetic risk factors may be exploited to stratify the risk of liver-related complications of the disease, and to guide hepatocellular carcinoma surveillance and choose pharmacological therapy

引用

页码：4566 / 4573

页数：8

共 98 条

[1] A Protein-Truncating HSD17B13 Variant and Protection from Chronic Liver Disease [J].

Abul-Husn, N. S. ;

Cheng, X. ;

Li, A. H. ;

Xin, Y. ;

Schurmann, C. ;

Stevis, P. ;

Liu, Y. ;

Kozlitina, J. ;

Stender, S. ;

Wood, G. C. ;

Stepanchick, A. N. ;

Still, M. D. ;

McCarthy, S. ;

O'Dushlaine, C. ;

Packer, J. S. ;

Balasubramanian, S. ;

Gosalia, N. ;

Esopi, D. ;

Kim, S. Y. ;

Mukherjee, S. ;

Lopez, A. E. ;

Fuller, E. D. ;

Penn, J. ;

Chu, X. ;

Luo, J. Z. ;

Mirshahi, U. L. ;

Carey, D. J. ;

Still, C. D. ;

Feldman, M. D. ;

Small, A. ;

Damrauer, S. M. ;

Rader, D. J. ;

Zambrowicz, B. ;

Olson, W. ;

Murphy, A. J. ;

Borecki, I. B. ;

Shuldiner, A. R. ;

Reid, J. G. ;

Overton, J. D. ;

Yancopoulos, G. D. ;

Hobbs, H. H. ;

Cohen, J. C. ;

Gottesman, O. ;

Teslovich, T. M. ;

Baras, A. ;

Mirshahi, T. ;

Gromada, J. ;

Dewey, F. E. .

NEW ENGLAND JOURNAL OF MEDICINE, 2018, 378 (12) :1096-1106

[2] The natural history of nonalcoholic fatty liver disease: A population-based cohort study [J].

Adams, LA ;

Lymp, JF ;

St Sauver, J ;

Sanderson, SO ;

Lindor, KD ;

Feldstein, A ;

Angulo, P .

GASTROENTEROLOGY, 2005, 129 (01) :113-121

[3] Nonalcoholic Fatty Liver Disease Increases Risk of Death Among Patients With Diabetes: A Community-Based Cohort Study [J].

Adams, Leon A. ;

Harmsen, Scott ;

St Sauver, Jennifer L. ;

Charatcharoenwitthaya, Phunchai ;

Enders, Felicity B. ;

Therneau, Terry ;

Angulo, Paul .

AMERICAN JOURNAL OF GASTROENTEROLOGY, 2010, 105 (07) :1567-1573

[4] Magnetic Resonance Imaging Proton Density Fat Fraction Associates With Progression of Fibrosis in Patients With Nonalcoholic Fatty Liver Disease [J].

Ajmera, Veeral ;

Park, Charlie C. ;

Caussy, Cyrielle ;

Singh, Seema ;

Hernandez, Carolyn ;

Bettencourt, Ricki ;

Hooker, Jonathan ;

Sy, Ethan ;

Behling, Cynthia ;

Xu, Ronghui ;

Middleton, Michael S. ;

Valasek, Mark A. ;

Faulkner, Claire ;

Rizo, Emily ;

Richards, Lisa ;

Sirlin, Claude B. ;

Loomba, Rohit .

GASTROENTEROLOGY, 2018, 155 (02) :307-+

[5] The SOD2 C47T polymorphism influences NAFLD fibrosis severity: Evidence from case-control and intra-familial allele association studies [J].

Al-Serri, Ahmad ;

Anstee, Quentin M. ;

Valenti, Luca ;

Nobili, Valerio ;

Leathart, Julian B. S. ;

Dongiovanni, Paola ;

Patch, Julia ;

Fracanzani, Anna ;

Fargion, Silvia ;

Day, Christopher P. ;

Daly, Ann K. .

JOURNAL OF HEPATOLOGY, 2012, 56 (02) :448-454

[6] Viral and host causes of fatty liver in chronic hepatitis B [J].

Altiparmak, Emin ;

Koklu, Seyfettin ;

Yalinkilic, Mesut ;

Yuksel, Osman ;

Cicek, Bahattin ;

Kayacetin, Ertugrul ;

Sahin, Tulin .

WORLD JOURNAL OF GASTROENTEROLOGY, 2005, 11 (20) :3056-3059

[7] How common is non-alcoholic fatty liver disease in the Asia-Pacific region and are there local differences? [J].

Amarapurkar, Deepak N. ;

Hashimoto, Estsuko ;

Lesmana, Laurentius A. ;

Sollano, Jose D. ;

Chen, Pei-Jer ;

Goh, Khean-Lee .

JOURNAL OF GASTROENTEROLOGY AND HEPATOLOGY, 2007, 22 (06) :788-793

[8] Hepatocellular carcinoma in non-alcoholic fatty liver disease: An emerging menace [J].

Baffy, Gyoergy ;

Brunt, Elizabeth M. ;

Caldwell, Stephen H. .

JOURNAL OF HEPATOLOGY, 2012, 56 (06) :1384-1391

[9] The PNPLA3 Variant Associated With Fatty Liver Disease (I148M) Accumulates on Lipid Droplets by Evading Ubiquitylation [J].

BasuRay, Soumik ;

Smagris, Eriks ;

Cohen, Jonathan C. ;

Hobbs, Helen H. .

HEPATOLOGY, 2017, 66 (04) :1111-1124

[10] The Natural History of Nonalcoholic Fatty Liver Disease With Advanced Fibrosis or Cirrhosis: An International Collaborative Study [J].

Bhala, Neeraj ;

Angulo, Paul ;

van der Poorten, David ;

Lee, Eric ;

Hui, Jason M. ;

Saracco, Giorgio ;

Adams, Leon A. ;

Charatcharoenwitthaya, Phunchai ;

Topping, Joanne H. ;

Bugianesi, Elisabetta ;

Day, Christopher P. ;

George, Jacob .

HEPATOLOGY, 2011, 54 (04) :1208-1216

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