MBOAT7 rs641738 increases risk of liver inflammation and transition to fibrosis in chronic hepatitis C

Nature Communications

Volumn 7, Issue , 2016, Pages

  Thabet, Khaled ^a,b   Asimakopoulos, Anastasia ^a   Shojaei, Maryam ^c,d   Romero Gomez, Manuel ^e   Mangia, Alessandra ^f   Irving, William L ^g   Berg, Thomas ^h   Dore, Gregory J ⁱ   Grønbæk, Henning ^j   Sheridan, David ^k   Abate, Maria Lorena ^l   Bugianesi, Elisabetta ^l   Weltman, Martin ^d   Mollison, Lindsay ^m   Cheng, Wendy ⁿ   Riordan, Stephen ^o   Fischer, Janett ^h   Spengler, Ulrich ^p   Nattermann, Jacob ^p   Wahid, Ahmed ^b   Rojas, Angela ^e   White, Rose ^a   Douglas, Mark W ^a,q   McLeod, Duncan ^r   Powell, Elizabeth ^s   Liddle, Christopher ^a   Van Der Poorten, David ^a   George, Jacob ^a   Eslam, Mohammed ^a   Gallego Duran, Rocio ^e   Applegate, Tanya ⁱ   Bassendine, Margaret ^t   Rosso, Chiara ^l   Mezzabotta, Lavinia ^l   Leung, Reynold ^a   Malik, Barbara ^h   Matthews, Gail ⁱ   Grebely, Jason ⁱ   Fragomeli, Vincenzo ^d   Jonsson, Julie R ⁱ   Santaro, Rosanna ^f   more..

^a UNIVERSITY OF SYDNEY   (Australia)

^b Minia University   (Egypt)

^c WESTMEAD HOSPITAL   (Australia)

^d NEPEAN HOSPITAL   (Australia)

^e HOSPITAL UNIVERSITARIO DE VALME   (Spain)

^f CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

^g UNIVERSITY OF NOTTINGHAM   (United Kingdom)

^h UNIVERSITY HOSPITAL LEIPZIG   (Germany)

ⁱ UNIVERSITY OF NEW SOUTH WALES   (Australia)

^j AARHUS UNIVERSITY HOSPITAL   (Denmark)

^k UNIVERSITY OF PLYMOUTH   (United Kingdom)

^l UNIVERSITY OF TURIN   (Italy)

^m FREMANTLE HOSPITAL   (Australia)

ⁿ ROYAL PERTH HOSPITAL   (Australia)

^o UNIVERSITY OF NEW SOUTH WALES   (Australia)

^p UNIVERSITY OF BONN   (Germany)

^q University of Sydney   (Australia)

^r WESTMEAD HOSPITAL   (Australia)

^s UNIVERSITY OF QUEENSLAND   (Australia)

^t NEWCASTLE UNIVERSITY   (United Kingdom)

more..

Author keywords

[No Author keywords available]

Indexed keywords

MBOAT7 PROTEIN; PROTEIN; UNCLASSIFIED DRUG; ACYLTRANSFERASE; MBOAT7 PROTEIN, HUMAN; MEMBRANE PROTEIN;

BIOMARKER; GENETIC ANALYSIS; HEPATITIS; HISTOPATHOLOGY; OXIDATION; PHYSIOLOGICAL RESPONSE; POLYMORPHISM; PROTEIN; SERUM;

ADULT; ARTICLE; CHRONIC HEPATITIS C; COHORT ANALYSIS; CONCENTRATION (PARAMETERS); CONTROLLED STUDY; DISEASE COURSE; DNA POLYMORPHISM; FATTY LIVER; FEMALE; GENE EXPRESSION; GENETIC MODEL; GENOTYPE; HEPATITIS; HUMAN; HUMAN TISSUE; IMMUNOCOMPETENT CELL; LIVER FIBROSIS; MACROPHAGE ACTIVATION; MAJOR CLINICAL STUDY; MALE; OXIDATIVE STRESS; PROTEIN EXPRESSION; BLOOD; CASE CONTROL STUDY; COMPLICATION; DISEASE EXACERBATION; GENETICS; IMMUNE SYSTEM; LIVER CELL CARCINOMA; LIVER CIRRHOSIS; LIVER TUMOR; METABOLISM; MIDDLE AGED; SINGLE NUCLEOTIDE POLYMORPHISM; VIROLOGY;

HEPATITIS C VIRUS;

ACYLTRANSFERASES; CARCINOMA, HEPATOCELLULAR; CASE-CONTROL STUDIES; COHORT STUDIES; DISEASE PROGRESSION; FATTY LIVER; FEMALE; HEPATITIS C, CHRONIC; HUMANS; IMMUNE SYSTEM; LIVER CIRRHOSIS; LIVER NEOPLASMS; MACROPHAGE ACTIVATION; MALE; MEMBRANE PROTEINS; MIDDLE AGED; OXIDATIVE STRESS; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 84987829315     PISSN: None     EISSN: 20411723     Source Type: Journal    
DOI: 10.1038/ncomms12757     Document Type: Article

References (33)

1. Seeff, L. B. Natural history of chronic hepatitis C. Hepatology 36(5 Suppl 1): 535-546 (2002).
2. Iredale, J. P. Models of liver fibrosis: exploring the dynamic nature of inflammation and repair in a solid organ. J. Clin. Invest. 117, 539-548 (2007).
3. Buch, S. et al. A genome-wide association study confirms PNPLA3 and identifies TM6SF2 and MBOAT7 as risk loci for alcohol-related cirrhosis. Nat. Genet. 47, 1443-1448 (2015).
4. Mancina, R. M. et al. The MBOAT7-TMC4 variant rs641738 increases risk of nonalcoholic fatty liver disease in individuals of European descent. Gastroenterology 150, 1219-1230. e6 (2016).
5. Masumoto, N. et al. Membrane bound O-acyltransferases and their inhibitors. Biochem. Soc. Trans. 43, 246-252 (2015).
6. Gijón, M. A., Riekhof, W. R., Zarini, S., Murphy, R. C., Voelker, D. R. Lysophospholipid acyltransferases and arachidonate recycling in human neutrophils. J. Biol. Chem. 283, 30235-30245 (2008).
7. Eslam, M. et al. Interferon-l rs12979860 genotype and liver fibrosis in viral and non-viral chronic liver disease. Nat. Commun. 6, 6422 (2015).
8. Eslam, M. et al. Diverse impacts of the rs58542926 E167K variant in TM6SF2 on viral and metabolic liver disease phenotypes. Hepatology 64, 34-46 (2016).
9. Lewis, C. M. Genetic association studies: design, analysis and interpretation. Brief Bioinform. 3, 146-153 (2002).
10. Hui, J. M. et al. Genotype-specific mechanisms for hepatic steatosis in chronic hepatitis C infection. J. Gastroenterol. Hepatol. 17, 873-881 (2002).
11. Barashi, N. et al. Inflammation-induced hepatocellular carcinoma is dependent on CCR5 in mice. Hepatology 58, 1021-1030 (2013).
12. Dimas, A. S. et al. Common regulatory variation impacts gene expression in a cell type-dependent manner. Science 325, 1246-1250 (2009).
13. Freeman, A. J., Marinos, G., Ffrench, R. A., Lloyd, A. R. Immunopathogenesis of hepatitis C virus infection. Immunol. Cell Biol. 79, 515-536 (2001).
14. Gijón, M. A., Riekhof, W. R., Zarini, S., Murphy, R. C., Voelker, D. R. Lysophospholipid acyltransferases and arachidonate recycling in human neutrophils. J. Biol. Chem. 283, 30235-30245 (2008).
15. Kazankov, K. et al. Soluble CD163, a macrophage activation marker, is independently associated with fibrosis in patients with chronic viral hepatitis B and C. Hepatology 60, 521-530 (2014).
16. van Dieren, J. M. et al. Anti-inflammatory actions of phosphatidylinositol. Eur. J. Immunol. 41, 1047-1057 (2011).
17. Cua, I. H. et al. Insulin resistance and liver injury in hepatitis C is not associated with virus-specific changes in adipocytokines. Hepatology 46, 66-73 (2007).
18. Leandro, G. et al. Relationship between steatosis, inflammation, and fibrosis in chronic hepatitis C: a meta-analysis of individual patient data. Gastroenterology 130, 1636-1642 (2006).
19. Heydtmann, M., Adams, D. H. Chemokines in the immunopathogenesis of hepatitis C infection. Hepatology 49, 676-688 (2009).
20. Innocenti, F. et al. Identification, replication, and functional fine-mapping of expression quantitative trait loci in primary human liver tissue. PLoS Genet. 7, e1002078 (2011).
21. Fu, J. et al. Unraveling the regulatory mechanisms underlying tissue-dependent genetic variation of gene expression. PLoS Genet. 8, e1002431 (2012).
22. Eslam, M. et al. FibroGENE: a gene-based model for staging liver fibrosis. J. Hepatol. 64, 390-398 (2016).
23. Bedossa, P., Poynard, T. An algorithm for the grading of activity in chronic hepatitis C. The METAVIR Cooperative Study Group. Hepatology 24, 289 (1996).
24. Eslam, M. et al. IFNL3 polymorphisms predict response to therapy in chronic hepatitis C genotype 2/3 infection. J. Hepatol. 61, 235-241 (2014).
25. van der Poorten, D. et al. Hepatitis C virus induces the cannabinoid receptor 1. PLoS ONE 5 (2010).
26. Hashemi, S. M. et al. Oxidative stress is closely associated with insulin resistance in genotypes 1 and 3 chronic hepatitis C. Hepatol. Int. 7, 516-523 (2013).
27. Møller, H. J., Peterslund, N. A., Graversen, J. H., Moestrup, S. K. Identification of the hemoglobin scavenger receptor/CD163 as a natural soluble protein in plasma. Blood 99, 378-380 (2002).
28. Westra, H. J. et al. Systematic identification of transeQTLs as putative drivers of known diseaseassociations. Nat. Genet. 45, 1238-1243 (2013).
29. Gerstein, M. B. et al. Architecture of the human regulatory network derived from ENCODE data. Nature 489, 91-100 (2012).
30. Boyle, A. P. et al. Annotation of functional variation in personal genomes using RegulomeDB. Genome Res. 22, 1790-1797 (2012).
31. Liu, C. et al. MirSNP, a database of polymorphisms altering miRNA target sites, identifies miRNA-related SNPs in GWAS SNPs and eQTLs. BMC Genomics 13, 661 (2012).
32. Akaike, H. Fitting autoregressive models for prediction. Ann. Inst. Stat. Math. 21, 243-247 (1969).
33. Skol, A. D., Scott, L. J., Abecasis, G. R., Boehnke, M. Joint analysis is more efficient than replication-based analysis for two-stage genome-wide association studies. Nat. Genet. 38, 209-213 (2006).