Genetic variant rs72613567 of HSD17B13 gene reduces alcohol‐related liver disease risk in Chinese Han population

Recently, the variant rs72613567:TA in the 17‐beta‐hydroxysteroid dehydrogenase 13 (HSD17B13) has been associated with reduced levels of ALT and AST and a reduced risk of alcohol‐related liver disease (ALD) in the European population. Therefore, the aim of this study was to investigate the association between the polymorphisms of HSD17B13 and ALD, liver serum markers and patatin‐like phospholipase domain‐containing protein 3 (PNPLA3) p.I148M in the Chinese Han population.

[1]  C. Datz,et al.  Genetic Variation in HSD17B13 Reduces the Risk of Developing Cirrhosis and Hepatocellular Carcinoma in Alcohol Misusers , 2020, Hepatology.

[2]  M. Moriguchi,et al.  Attenuated effect of PNPLA3 on hepatic fibrosis by HSD17B13 in Japanese patients with non‐alcoholic fatty liver disease , 2020, Liver international : official journal of the International Association for the Study of the Liver.

[3]  D. Zeng,et al.  Association of HSD17B13 rs72613567:TA with non‐alcoholic fatty liver disease in Hispanics/Latinos , 2020, Liver international : official journal of the International Association for the Study of the Liver.

[4]  B. Nordestgaard,et al.  High Risk of Fatty Liver Disease Amplifies the Alanine Transaminase–Lowering Effect of a HSD17B13 Variant , 2020, Hepatology.

[5]  Y. Guan,et al.  Role of HSD17B13 in the liver physiology and pathophysiology , 2019, Molecular and Cellular Endocrinology.

[6]  M. Ziol,et al.  A 17‐Beta‐Hydroxysteroid Dehydrogenase 13 Variant Protects From Hepatocellular Carcinoma Development in Alcoholic Liver Disease , 2019, Hepatology.

[7]  E. Speliotes,et al.  17‐Beta Hydroxysteroid Dehydrogenase 13 Is a Hepatic Retinol Dehydrogenase Associated With Histological Features of Nonalcoholic Fatty Liver Disease , 2019, Hepatology.

[8]  F. Lammert,et al.  TM6SF2 and MBOAT7 Gene Variants in Liver Fibrosis and Cirrhosis , 2019, International journal of molecular sciences.

[9]  M. Ziol,et al.  PNPLA3 and TM6SF2 variants as risk factors of hepatocellular carcinoma across various etiologies and severity of underlying liver diseases , 2018, International journal of cancer.

[10]  S. Sookoian,et al.  Splice variant rs72613567 prevents worst histologic outcomes in patients with nonalcoholic fatty liver disease[S] , 2018, Journal of Lipid Research.

[11]  Qiang Sun,et al.  Single-nucleotide rs738409 polymorphisms in the PNPLA3 gene are strongly associated with alcoholic liver disease in Han Chinese males , 2018, Hepatology International.

[12]  R. Bataller,et al.  Alcoholic liver disease , 2018, Nature Reviews Disease Primers.

[13]  H. Cortez‐Pinto,et al.  EASL Clinical Practice Guidelines: Management of alcohol-related liver disease. , 2018, Journal of hepatology.

[14]  J. Biernacka,et al.  PNPLA3 Association with Alcoholic Liver Disease in a Cohort of Heavy Drinkers , 2018, Alcohol and alcoholism.

[15]  Alexander E. Lopez,et al.  A Protein‐Truncating HSD17B13 Variant and Protection from Chronic Liver Disease , 2018, The New England journal of medicine.

[16]  F. Lammert,et al.  Genetic variants in PNPLA3 and TM6SF2 predispose to the development of hepatocellular carcinoma in individuals with alcohol‐related cirrhosis , 2018, The American Journal of Gastroenterology.

[17]  N. Chalasani,et al.  An exploratory genome-wide analysis of genetic risk for alcoholic hepatitis , 2017, Scandinavian journal of gastroenterology.

[18]  A. McQuillin,et al.  Homozygosity for rs738409:G in PNPLA3 is associated with increased mortality following an episode of severe alcoholic hepatitis. , 2017, Journal of hepatology.

[19]  P. Haber,et al.  Alcoholic Liver Disease in Asia, Europe, and North America. , 2016, Gastroenterology.

[20]  Dermot F. Reilly,et al.  The MBOAT7-TMC4 Variant rs641738 Increases Risk of Nonalcoholic Fatty Liver Disease in Individuals of European Descent. , 2016, Gastroenterology.

[21]  K. Huse,et al.  A genome-wide association study confirms PNPLA3 and identifies TM6SF2 and MBOAT7 as risk loci for alcohol-related cirrhosis , 2015, Nature Genetics.

[22]  Y. Kuo,et al.  PNPLA3 Gene Polymorphism Is Associated With Predisposition to and Severity of Alcoholic Liver Disease , 2015, The American Journal of Gastroenterology.

[23]  Alexandre Louvet,et al.  Alcoholic liver disease: mechanisms of injury and targeted treatment , 2015, Nature Reviews Gastroenterology &Hepatology.

[24]  B. Durbin-Johnson,et al.  Ethnic differences in presentation and severity of alcoholic liver disease. , 2015, Alcoholism, clinical and experimental research.

[25]  J. Gustafsson,et al.  Comparative proteomic study reveals 17β-HSD13 as a pathogenic protein in nonalcoholic fatty liver disease , 2014, Proceedings of the National Academy of Sciences.

[26]  K. Clément,et al.  TM6SF2 rs58542926 influences hepatic fibrosis progression in patients with non-alcoholic fatty liver disease , 2014, Nature Communications.

[27]  Anne Tybjærg-Hansen,et al.  Exome-wide association study identifies a TM6SF2 variant that confers susceptibility to nonalcoholic fatty liver disease , 2014, Nature Genetics.

[28]  A. Molinaro,et al.  PNPLA3 I148M (rs738409) genetic variant and age at onset of at-risk alcohol consumption are independent risk factors for alcoholic cirrhosis , 2013, Liver international : official journal of the International Association for the Study of the Liver.

[29]  T. Liang,et al.  The association of genetic variability in patatin‐like phospholipase domain‐containing protein 3 (PNPLA3) with histological severity of nonalcoholic fatty liver disease , 2010, Hepatology.

[30]  Alexander Pertsemlidis,et al.  Genetic variation in PNPLA3 confers susceptibility to nonalcoholic fatty liver disease , 2008, Nature Genetics.

[31]  M. Araki,et al.  17beta-Hydroxysteroid dehydrogenase type 13 is a liver-specific lipid droplet-associated protein. , 2008, Biochemical and biophysical research communications.

[32]  M. Bennett,et al.  Determinants of progression to cirrhosis or fibrosis in pure alcoholic fatty liver , 1995, The Lancet.

[33]  B. Gao,et al.  22 – Epidemiology and Pathogenesis of Alcoholic Liver Disease , 2018 .

[34]  C. Fabris,et al.  PNPLA3 rs738409 and TM6SF2 rs58542926 variants increase the risk of hepatocellular carcinoma in alcoholic cirrhosis. , 2016, Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver.

[35]  L. Bierut,et al.  Identifying Genetic Variation for Alcohol Dependence , 2012, Alcohol research : current reviews.