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151. PCSK9 rs11591147 R46L loss‐of‐function variant protects against liver damage in individuals with NAFLD

Author

Grimaudo, Stefania, Bartesaghi, Stefano, Rametta, Raffaela, Marra, Fabio, Margherita Mancina, Rosellina, Pihlajamäki, Jussi, Kakol‐Palm, Dorota, Andréasson, Anne‐Christine, Dongiovanni, Paola, Ludovica Fracanzani, Anna, Lori, Giulia, Männistö, Ville, Pellegrini, Giovanni, Bohlooly‐Y, Mohammad, Pennisi, Grazia, Maria Pipitone, Rosaria, Spagnuolo, Rocco, Craxì, Antonio, Lindén, Daniel, Valenti, Luca, Romeo, Stefano, Petta, Salvatore, University of Zurich, and Petta, Salvatore

Subjects
Hepatology, 570 Life sciences, biology, 10184 Institute of Veterinary Pathology, 2721 Hepatology
Published
2021
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152. EU-Wide Cross-Sectional Observational Study of Lipid-Modifying Therapy Use in Secondary and Primary Care: the DA VINCI study

Author

Ray, Kausik K. Molemans, Bart Schoonen, W. Marieke Giovas, Periklis Bray, Sarah Kiru, Gaia Murphy, Jennifer Banach, Maciej De Servi, Stefano Gaita, Dan Gouni-Berthold, Ioanna and Hovingh, G. Kees Jozwiak, Jacek J. Jukema, J. Wouter and Kiss, Robert Gabor Kownator, Serge Iversen, Helle K. Maher, Vincent Masana, Luis Parkhomenko, Alexander Peeters, Andre and Clifford, Piers Raslova, Katarina Siostrzonek, Peter and Romeo, Stefano Tousoulis, Dimitrios Vlachopoulos, Charalambos and Vrablik, Michal Catapano, Alberico L. Poulter, Neil R. and DA VINCI study

Abstract

Aims To provide contemporary data on the implementation of European guideline recommendations for lipid-lowering therapies (LLTs) across different settings and populations and how this impacts low-density lipoprotein cholesterol (LDL-C) goal achievement. Methods and results An 18 country, cross-sectional, observational study of patients prescribed LLT for primary or secondary prevention in primary or secondary care across Europe. Between June 2017 and November 2018, data were collected at a single visit, including LLT in the preceding 12 months and most recent LDL-C. Primary outcome was the achievement of risk-based 2016 European Society of Cardiology (ESC)/European Atherosclerosis Society (EAS) LDL-C goal while receiving stabilized LLT; 2019 goal achievement was also assessed. Overall, 5888 patients (3000 primary and 2888 secondary prevention patients) were enrolled; 54% [95% confidence interval (CI) 52-56] achieved their risk-based 2016 goal and 33% (95% CI 32-35) achieved their risk-based 2019 goal. High-intensity statin monotherapy was used in 20% and 38% of very high-risk primary and secondary prevention patients, respectively. Corresponding 2016 goal attainment was 22% and 45% (17% and 22% for 2019 goals) for very high-risk primary and secondary prevention patients, respectively. Use of moderate-high-intensity statins in combination with ezetimibe (9%), or any LLT with PCSK9 inhibitors (1%), was low; corresponding 2016 and 2019 goal attainment was 53% and 20% (ezetimibe combination), and 67% and 58% (PCSK9i combination). Conclusion Gaps between clinical guidelines and clinical practice for lipid management across Europe persist, which will be exacerbated by the 2019 guidelines. Even with optimized statins, greater utilization of non-statin LLT is likely needed to reduce these gaps for patients at highest risk.

Published
2021

153. Additional file 1 of Effect of a novel functional tomato sauce (OsteoCol) from vine-ripened tomatoes on serum lipids in individuals with common hypercholesterolemia: tomato sauce and hypercholesterolemia

Author

Ferro, Yvelise, Mazza, Elisa, Angotti, Elvira, Pujia, Roberta, Mirarchi, Angela, Salvati, Maria Antonietta, Terracciano, Rosa, Savino, Rocco, Romeo, Stefano, Scuteri, Antonio, Mare, Rosario, Costanzo, Francesco Saverio, Pujia, Arturo, and Montalcini, Tiziana

Abstract

Additional file 1: Table S1. Servings of various food categories consumed daily or weekly during the study according with the dietary treatment.

Published
2021
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154. rs641738C>T near MBOAT7 is associated with liver fat, ALT and fibrosis in NAFLD: A meta-analysis

Author

Teo, Kevin, Abeysekera, Kushala WM, Adams, Leon, Aigner, Elmar, Anstee, Quentin M, Banales, Jesus M, Banerjee, Rajarshi, Basu, Priyadarshi, Berg, Thomas, Bhatnagar, Pallav, Buch, Stephan, Canbay, Ali, Caprio, Sonia, Chatterjee, Ankita, Ida Chen, Yii-Der, Chowdhury, Abhijit, Daly, Ann K, Datz, Christian, de Gracia Hahn, Dana, DiStefano, Johanna K, Dong, Jiawen, Duret, Amedine, EU-PNAFLD Investigators, Emdin, Connor, Fairey, Madison, Gerhard, Glenn S, GOLD Consortium, Guo, Xiuqing, Hampe, Jochen, Hickman, Matthew, Heintz, Lena, Hudert, Christian, Hunter, Harriet, Kelly, Matt, Kozlitina, Julia, Krawczyk, Marcin, Lammert, Frank, Langenberg, Claudia, Lavine, Joel, Li, Lin, Lim, Hong Kai, Loomba, Rohit, Luukkonen, Panu K, Melton, Phillip E, Mori, Trevor A, Palmer, Nicholette D, Parisinos, Constantinos A, Pillai, Sreekumar G, Qayyum, Faiza, Reichert, Matthias C, Romeo, Stefano, Rotter, Jerome I, Im, Yu Ri, Santoro, Nicola, Schafmayer, Clemens, Speliotes, Elizabeth K, Stender, Stefan, Stickel, Felix, Still, Christopher D, Strnad, Pavel, Taylor, Kent D, Tybjærg-Hansen, Anne, Umano, Giuseppina Rosaria, Utukuri, Mrudula, Valenti, Luca, Wagenknecht, Lynne E, Wareham, Nicholas J, Watanabe, Richard M, Wattacheril, Julia, Yaghootkar, Hanieh, Yki-Järvinen, Hannele, Young, Kendra A, Mann, Jake P, Langenberg, Claudia [0000-0002-5017-7344], Wareham, Nicholas [0000-0003-1422-2993], Mann, Jake [0000-0002-4711-9215], and Apollo - University of Cambridge Repository

Subjects
Liver Cirrhosis, Diabetes, Membrane Proteins, Alanine Transaminase, ALSPAC, Fibrosis, Triglyceride, Polymorphism, Single Nucleotide, MBOAT7, Liver, Non-alcoholic Fatty Liver Disease, NAFLD, Drug Discovery, Humans, Genetic Predisposition to Disease, Acyltransferases
Abstract

BACKGROUND & AIMS: A common genetic variant near MBOAT7 (rs641738C>T) has been previously associated with hepatic fat and advanced histology in NAFLD; however, these findings have not been consistently replicated in the literature. We aimed to establish whether rs641738C>T is a risk factor across the spectrum of NAFLD and to characterise its role in the regulation of related metabolic phenotypes through a meta-analysis. METHODS: We performed a meta-analysis of studies with data on the association between rs641738C>T genotype and liver fat, NAFLD histology, and serum alanine aminotransferase (ALT), lipids or insulin. These included directly genotyped studies and population-level data from genome-wide association studies (GWAS). We performed a random effects meta-analysis using recessive, additive and dominant genetic models. RESULTS: Data from 1,066,175 participants (9,688 with liver biopsies) across 42 studies were included in the meta-analysis. rs641738C>T was associated with higher liver fat on CT/MRI (+0.03 standard deviations [95% CI 0.02-0.05], pz = 4.8×10-5) and diagnosis of NAFLD (odds ratio [OR] 1.17 [95% CI 1.05-1.3], pz = 0.003) in Caucasian adults. The variant was also positively associated with presence of advanced fibrosis (OR 1.22 [95% CI 1.03-1.45], pz = 0.021) in Caucasian adults using a recessive model of inheritance (CC + CT vs. TT). Meta-analysis of data from previous GWAS found the variant to be associated with higher ALT (pz = 0.002) and lower serum triglycerides (pz = 1.5×10-4). rs641738C>T was not associated with fasting insulin and no effect was observed in children with NAFLD. CONCLUSIONS: Our study validates rs641738C>T near MBOAT7 as a risk factor for the presence and severity of NAFLD in individuals of European descent. LAY SUMMARY: Fatty liver disease is a common condition where fat builds up in the liver, which can cause liver inflammation and scarring (including 'cirrhosis'). It is closely linked to obesity and diabetes, but some genes are also thought to be important. We did this study to see whether one specific change ('variant') in one gene ('MBOAT7') was linked to fatty liver disease. We took data from over 40 published studies and found that this variant near MBOAT7 is linked to more severe fatty liver disease. This means that drugs designed to work on MBOAT7 could be useful for treating fatty liver disease.

Published
2021

155. rs641738C>T nearMBOAT7is associated with liver fat, ALT and fibrosis in NAFLD: A meta-analysis

Author

Medicina, Medikuntza, Teo, Kevin, Abeysekera, Kushala W.M., Adams, Leon, Aigner, Elmar, Anstee, Quentin M., Bañales Asurmendi, Jesús María, Banerjee, Rajarshi, Basu, Priyadarshi, Berg, Thomas, Bhatnagar, Pallav, Buch, Stephan, Canbay, Ali, Caprio, Sonia, Chatterjee, Ankita, Chen, Yii-Der Ida, Chowdhury, Abhijit, Daly, Ann K., Datz, Christian, De Gracia Hahn, Dana, DiStefano, Johanna K., Dong, Jiawen, Duret, Amedine, EU-PNAFLD Investigators, Emdin, Connor, Fairey, Madison, Gerhard, Glenn S., GOLD Consortium, Guo, Xiuqing, Hampe, Jochen, Hickman, Matthew, Heintz, Lena, Hudert, Christian, Hunter, Harriet, Kelly, Matt, Kozlitina, Julia, Krawczyk, Marcin, Lammert, Frank, Langenberg, Claudia, Lavine, Joel, Li, Lin, Lim, Hong Kai, Loomba, Rohit, Luukkonen, Panu K., Melton, Phillip E., Mori, Trevor A., Palmer, Nicholette D., Parisinos, Constantinos A., Pillai, Sreekumar G., Qayyum, Faiza, Reichert, Matthias C., Romeo, Stefano, Rotter, Jerome I., Im, Yu Ri, Santoro, Nicola, Schafmayer, Clemens, Speliotes, Elizabeth K., Stender, Stefan, Stickel, Felix, Still, Christopher D., Strnad, Pavel, Taylor, Kent D., Tybjærg-Hansen, Anne, Umano, Giuseppina Rosaria, Utukuri, Mrudula, Valenti, Luca, Wagenknecht, Lynne E., Wareham, Nicholas J., Watanabe, Richard M., Wattacheril, Julia, Yaghootkar, Hanieh, Yki-Järvinen, Hannele, Young, Kendra A., Mann, Jake P., Medicina, Medikuntza, Teo, Kevin, Abeysekera, Kushala W.M., Adams, Leon, Aigner, Elmar, Anstee, Quentin M., Bañales Asurmendi, Jesús María, Banerjee, Rajarshi, Basu, Priyadarshi, Berg, Thomas, Bhatnagar, Pallav, Buch, Stephan, Canbay, Ali, Caprio, Sonia, Chatterjee, Ankita, Chen, Yii-Der Ida, Chowdhury, Abhijit, Daly, Ann K., Datz, Christian, De Gracia Hahn, Dana, DiStefano, Johanna K., Dong, Jiawen, Duret, Amedine, EU-PNAFLD Investigators, Emdin, Connor, Fairey, Madison, Gerhard, Glenn S., GOLD Consortium, Guo, Xiuqing, Hampe, Jochen, Hickman, Matthew, Heintz, Lena, Hudert, Christian, Hunter, Harriet, Kelly, Matt, Kozlitina, Julia, Krawczyk, Marcin, Lammert, Frank, Langenberg, Claudia, Lavine, Joel, Li, Lin, Lim, Hong Kai, Loomba, Rohit, Luukkonen, Panu K., Melton, Phillip E., Mori, Trevor A., Palmer, Nicholette D., Parisinos, Constantinos A., Pillai, Sreekumar G., Qayyum, Faiza, Reichert, Matthias C., Romeo, Stefano, Rotter, Jerome I., Im, Yu Ri, Santoro, Nicola, Schafmayer, Clemens, Speliotes, Elizabeth K., Stender, Stefan, Stickel, Felix, Still, Christopher D., Strnad, Pavel, Taylor, Kent D., Tybjærg-Hansen, Anne, Umano, Giuseppina Rosaria, Utukuri, Mrudula, Valenti, Luca, Wagenknecht, Lynne E., Wareham, Nicholas J., Watanabe, Richard M., Wattacheril, Julia, Yaghootkar, Hanieh, Yki-Järvinen, Hannele, Young, Kendra A., and Mann, Jake P.

Abstract

Background & Aims: A common genetic variant near MBOAT7 (rs641738C>T) has been previously associated with hepatic fat and advanced histology in NAFLD; however, these findings have not been consistently replicated in the literature. We aimed to establish whether rs641738C>T is a risk factor across the spectrum of NAFLD and to characterise its role in the regulation of related metabolic phenotypes through a meta-analysis. Methods: We performed a meta-analysis of studies with data on the association between rs641738C>T genotype and liver fat, NAFLD histology, and serum alanine aminotransferase (ALT), lipids or insulin. These included directly genotyped studies and population-level data from genome-wide association studies (GWAS). We performed a random effects meta-analysis using recessive, additive and dominant genetic models. Results: Data from 1,066,175 participants (9,688 with liver biopsies) across 42 studies were included in the meta-analysis. rs641738C>T was associated with higher liver fat on CT/MRI (+0.03 standard deviations [95% CI 0.02-0.05], p(z) = 4.8x10(-5)) and diagnosis of NAFLD (odds ratio [OR] 1.17 [95% CI 1.05-1.3], p(z) = 0.003) in Caucasian adults. The variant was also positively associated with presence of advanced fibrosis (OR 1.22 [95% CI 1.03-1.45], p(z) = 0.021) in Caucasian adults using a recessive model of inheritance (CC + CT vs. TT). Meta-analysis of data from previous GWAS found the variant to be associated with higher ALT (p(z) = 0.002) and lower serum triglycerides (p(z) = 1.5x10(-4)). rs641738C>T was not associated with fasting insulin and no effect was observed in children with NAFLD. Conclusions: Our study validates rs641738C>T near MBOAT7 as a risk factor for the presence and severity of NAFLD in individuals of European descent. Lay summary: Fatty liver disease is a common condition where fat builds up in the liver, which can cause liver inflammation and scarring (including 'cirrhosis'). It is closely linked to obesity and diabetes

Published
2021

156. EU-Wide Cross-Sectional Observational Study of Lipid-Modifying Therapy Use in Secondary and Primary Care: the DA VINCI study.

Author

UCL - SSS/IONS - Institute of NeuroScience, UCL - (SLuc) Service de neurologie, Ray, Kausik K, Molemans, Bart, Schoonen, W Marieke, Giovas, Periklis, Bray, Sarah, Kiru, Gaia, Murphy, Jennifer, Banach, Maciej, De Servi, Stefano, Gaita, Dan, Gouni-Berthold, Ioanna, Hovingh, G Kees, Jozwiak, Jacek J, Jukema, J Wouter, Kiss, Robert Gabor, Kownator, Serge, Iversen, Helle K, Maher, Vincent, Masana, Luis, Parkhomenko, Alexander, Peeters, André, Clifford, Piers, Raslova, Katarina, Siostrzonek, Peter, Romeo, Stefano, Tousoulis, Dimitrios, Vlachopoulos, Charalambos, Vrablik, Michal, Catapano, Alberico L, Poulter, Neil R, DA VINCI study, UCL - SSS/IONS - Institute of NeuroScience, UCL - (SLuc) Service de neurologie, Ray, Kausik K, Molemans, Bart, Schoonen, W Marieke, Giovas, Periklis, Bray, Sarah, Kiru, Gaia, Murphy, Jennifer, Banach, Maciej, De Servi, Stefano, Gaita, Dan, Gouni-Berthold, Ioanna, Hovingh, G Kees, Jozwiak, Jacek J, Jukema, J Wouter, Kiss, Robert Gabor, Kownator, Serge, Iversen, Helle K, Maher, Vincent, Masana, Luis, Parkhomenko, Alexander, Peeters, André, Clifford, Piers, Raslova, Katarina, Siostrzonek, Peter, Romeo, Stefano, Tousoulis, Dimitrios, Vlachopoulos, Charalambos, Vrablik, Michal, Catapano, Alberico L, Poulter, Neil R, and DA VINCI study

Abstract

To provide contemporary data on the implementation of European guideline recommendations for lipid-lowering therapies (LLTs) across different settings and populations and how this impacts low-density lipoprotein cholesterol (LDL-C) goal achievement. An 18 country, cross-sectional, observational study of patients prescribed LLT for primary or secondary prevention in primary or secondary care across Europe. Between June 2017 and November 2018, data were collected at a single visit, including LLT in the preceding 12 months and most recent LDL-C. Primary outcome was the achievement of risk-based 2016 European Society of Cardiology (ESC)/European Atherosclerosis Society (EAS) LDL-C goal while receiving stabilized LLT; 2019 goal achievement was also assessed. Overall, 5888 patients (3000 primary and 2888 secondary prevention patients) were enrolled; 54% [95% confidence interval (CI) 52-56] achieved their risk-based 2016 goal and 33% (95% CI 32-35) achieved their risk-based 2019 goal. High-intensity statin monotherapy was used in 20% and 38% of very high-risk primary and secondary prevention patients, respectively. Corresponding 2016 goal attainment was 22% and 45% (17% and 22% for 2019 goals) for very high-risk primary and secondary prevention patients, respectively. Use of moderate-high-intensity statins in combination with ezetimibe (9%), or any LLT with PCSK9 inhibitors (1%), was low; corresponding 2016 and 2019 goal attainment was 53% and 20% (ezetimibe combination), and 67% and 58% (PCSK9i combination). Gaps between clinical guidelines and clinical practice for lipid management across Europe persist, which will be exacerbated by the 2019 guidelines. Even with optimized statins, greater utilization of non-statin LLT is likely needed to reduce these gaps for patients at highest risk.

Published
2021

157. EU-Wide Cross-Sectional Observational Study of Lipid-Modifying Therapy Use in Secondary and Primary Care: the DA VINCI study

Author

Universitat Rovira i Virgili, Ray, Kausik K.; Molemans, Bart; Schoonen, W. Marieke; Giovas, Periklis; Bray, Sarah; Kiru, Gaia; Murphy, Jennifer; Banach, Maciej; De Servi, Stefano; Gaita, Dan; Gouni-Berthold, Ioanna; Hovingh, G. Kees; Jozwiak, Jacek J.; Jukema, J. Wouter; Kiss, Robert Gabor; Kownator, Serge; Iversen, Helle K.; Maher, Vincent; Masana, Luis; Parkhomenko, Alexander; Peeters, Andre; Clifford, Piers; Raslova, Katarina; Siostrzonek, Peter; Romeo, Stefano; Tousoulis, Dimitrios; Vlachopoulos, Charalambos; Vrablik, Michal; Catapano, Alberico L.; Poulter, Neil R.;DA VINCI study, Universitat Rovira i Virgili, and Ray, Kausik K.; Molemans, Bart; Schoonen, W. Marieke; Giovas, Periklis; Bray, Sarah; Kiru, Gaia; Murphy, Jennifer; Banach, Maciej; De Servi, Stefano; Gaita, Dan; Gouni-Berthold, Ioanna; Hovingh, G. Kees; Jozwiak, Jacek J.; Jukema, J. Wouter; Kiss, Robert Gabor; Kownator, Serge; Iversen, Helle K.; Maher, Vincent; Masana, Luis; Parkhomenko, Alexander; Peeters, Andre; Clifford, Piers; Raslova, Katarina; Siostrzonek, Peter; Romeo, Stefano; Tousoulis, Dimitrios; Vlachopoulos, Charalambos; Vrablik, Michal; Catapano, Alberico L.; Poulter, Neil R.;DA VINCI study

Abstract

Aims To provide contemporary data on the implementation of European guideline recommendations for lipid-lowering therapies (LLTs) across different settings and populations and how this impacts low-density lipoprotein cholesterol (LDL-C) goal achievement.Methods and results An 18 country, cross-sectional, observational study of patients prescribed LLT for primary or secondary prevention in primary or secondary care across Europe. Between June 2017 and November 2018, data were collected at a single visit, including LLT in the preceding 12 months and most recent LDL-C. Primary outcome was the achievement of risk-based 2016 European Society of Cardiology (ESC)/European Atherosclerosis Society (EAS) LDL-C goal while receiving stabilized LLT; 2019 goal achievement was also assessed. Overall, 5888 patients (3000 primary and 2888 secondary prevention patients) were enrolled; 54% [95% confidence interval (CI) 52-56] achieved their risk-based 2016 goal and 33% (95% CI 32-35) achieved their risk-based 2019 goal. High-intensity statin monotherapy was used in 20% and 38% of very high-risk primary and secondary prevention patients, respectively. Corresponding 2016 goal attainment was 22% and 45% (17% and 22% for 2019 goals) for very high-risk primary and secondary prevention patients, respectively. Use of moderate-high-intensity statins in combination with ezetimibe (9%), or any LLT with PCSK9 inhibitors (1%), was low; corresponding 2016 and 2019 goal attainment was 53% and 20% (ezetimibe combination), and 67% and 58% (PCSK9i combination).Conclusion Gaps between clinical guidelines and clinical practice for lipid management across Europe persist, which will be exacerbated by the 2019 guidelines. Even with optimized statins, greater utilization of non-statin LLT is likely needed to re

Published
2021

159. Association between the PNPLA3 (rs738409 C>G) variant and hepatocellular carcinoma: Evidence from a meta-analysis of individual participant data

Author

Trépo, Eric, Nahon, Pierre, Bontempi, Gianluca, Valenti, Luca, Falleti, Edmondo, Nischalke, Hans-Dieter, Hamza, Samia, Corradini, Stefano Ginanni, Burza, Maria Antonella, Guyot, Erwan, Donati, Benedetta, Spengler, Ulrich, Hillon, Patrick, Toniutto, Pierluigi, Henrion, Jean, Franchimont, Denis, Devière, Jacques, Mathurin, Philippe, Moreno, Christophe, Romeo, Stefano, and Deltenre, Pierre

Published
2014
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162. Interaction between estrogen receptor-α and PNPLA3p.I148M variant drives fatty liver disease susceptibility in women

Author

Cherubini, Alessandro, Ostadreza, Mahnoosh, Jamialahmadi, Oveis, Pelusi, Serena, Rrapaj, Eniada, Casirati, Elia, Passignani, Giulia, Norouziesfahani, Marjan, Sinopoli, Elena, Baselli, Guido, Meda, Clara, Dongiovanni, Paola, Dondossola, Daniele, Youngson, Neil, Tourna, Aikaterini, Chokshi, Shilpa, Bugianesi, Elisabetta, Della Torre, Sara, Prati, Daniele, Romeo, Stefano, and Valenti, Luca

Abstract

Fatty liver disease (FLD) caused by metabolic dysfunction is the leading cause of liver disease and the prevalence is rising, especially in women. Although during reproductive age women are protected against FLD, for still unknown and understudied reasons some develop rapidly progressive disease at the menopause. The patatin-like phospholipase domain-containing 3 (PNPLA3) p.I148M variant accounts for the largest fraction of inherited FLD variability. In the present study, we show that there is a specific multiplicative interaction between female sex and PNPLA3p.I148M in determining FLD in at-risk individuals (steatosis and fibrosis, P< 10−10; advanced fibrosis/hepatocellular carcinoma, P= 0.034) and in the general population (P< 10−7for alanine transaminase levels). In individuals with obesity, hepatic PNPLA3expression was higher in women than in men (P= 0.007) and in mice correlated with estrogen levels. In human hepatocytes and liver organoids, PNPLA3was induced by estrogen receptor-α (ER-α) agonists. By chromatin immunoprecipitation and luciferase assays, we identified and characterized an ER-α-binding site within a PNPLA3enhancer and demonstrated via CRISPR–Cas9 genome editing that this sequence drives PNPLA3p.I148M upregulation, leading to lipid droplet accumulation and fibrogenesis in three-dimensional multilineage spheroids with stellate cells. These data suggest that a functional interaction between ER-α and PNPLA3p.I148M variant contributes to FLD in women.

Published
2023
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163. Genetic variation in TERTmodifies the risk of hepatocellular carcinoma in alcohol-related cirrhosis: results from a genome-wide case-control study

Author

Buch, Stephan, Innes, Hamish, Lutz, Philipp Ludwig, Nischalke, Hans Dieter, Marquardt, Jens U, Fischer, Janett, Weiss, Karl Heinz, Rosendahl, Jonas, Marot, Astrid, Krawczyk, Marcin, Casper, Markus, Lammert, Frank, Eyer, Florian, Vogel, Arndt, Marhenke, Silke, von Felden, Johann, Sharma, Rohini, Atkinson, Stephen Rahul, McQuillin, Andrew, Nattermann, Jacob, Schafmayer, Clemens, Franke, Andre, Strassburg, Christian, Rietschel, Marcella, Altmann, Heidi, Sulk, Stefan, Thangapandi, Veera Raghavan, Brosch, Mario, Lackner, Carolin, Stauber, Rudolf E, Canbay, Ali, Link, Alexander, Reiberger, Thomas, Mandorfer, Mattias, Semmler, Georg, Scheiner, Bernhard, Datz, Christian, Romeo, Stefano, Ginanni Corradini, Stefano, Irving, William Lucien, Morling, Joanne R, Guha, Indra Neil, Barnes, Eleanor, Ansari, M Azim, Quistrebert, Jocelyn, Valenti, Luca, Mu¨ller, Sascha A, Morgan, Marsha Yvonne, Dufour, Jean-Francois, Trebicka, Jonel, Berg, Thomas, Deltenre, Pierre, Mueller, Sebastian, Hampe, Jochen, and Stickel, Felix

Abstract

ObjectiveHepatocellular carcinoma (HCC) often develops in patients with alcohol-related cirrhosis at an annual risk of up to 2.5%. Some host genetic risk factors have been identified but do not account for the majority of the variance in occurrence. This study aimed to identify novel susceptibility loci for the development of HCC in people with alcohol related cirrhosis.DesignPatients with alcohol-related cirrhosis and HCC (cases: n=1214) and controls without HCC (n=1866), recruited from Germany, Austria, Switzerland, Italy and the UK, were included in a two-stage genome-wide association study using a case–control design. A validation cohort of 1520 people misusing alcohol but with no evidence of liver disease was included to control for possible association effects with alcohol misuse. Genotyping was performed using the InfiniumGlobal Screening Array (V.24v2, Illumina) and the OmniExpress Array (V.24v1-0a, Illumina).ResultsAssociations with variants rs738409 in PNPLA3and rs58542926 in TM6SF2previously associated with an increased risk of HCC in patients with alcohol-related cirrhosis were confirmed at genome-wide significance. A novel locus rs2242652(A) in TERT(telomerase reverse transcriptase) was also associated with a decreased risk of HCC, in the combined meta-analysis, at genome-wide significance (p=6.41×10−9, OR=0.61 (95% CI 0.52 to 0.70). This protective association remained significant after correction for sex, age, body mass index and type 2 diabetes (p=7.94×10−5, OR=0.63 (95% CI 0.50 to 0.79). Carriage of rs2242652(A) in TERTwas associated with an increased leucocyte telomere length (p=2.12×10−44).ConclusionThis study identifies rs2242652 in TERTas a novel protective factor for HCC in patients with alcohol-related cirrhosis.

Published
2023
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164. Rare loss-of-function mutations in ANGPTL family members contribute to plasma triglyceride levels in humans

Author

Romeo, Stefano, Yin, Wu, Kozlitina, Julia, Pennacchio, Len A., Boerwinkle, Eric, Hobbs, Helen H., and Cohen, Jonathan C.

Subjects
Gene mutations -- Physiological aspects, Gene mutations -- Health aspects, Lipid metabolism -- Physiological aspects, Lipid metabolism -- Research, Triglycerides -- Physiological aspects, Triglycerides -- Health aspects
Abstract

The relative activity of lipoprotein lipase (LPL) in different tissues controls the partitioning of lipoproteinderived fatty acids between sites of fat storage (adipose tissue) and oxidation (heart and skeletal muscle). Here we used a reverse genetic strategy to test the hypothesis that 4 angiopoietin-like proteins (ANGPTL3, -4, -5, and -6) play key roles in triglyceride (TG) metabolism in humans. We re-sequenced the coding regions of the genes encoding these proteins and identified multiple rare nonsynonymous (NS) sequence variations that were associated with low plasma TG levels but not with other metabolic phenotypes. Functional studies revealed that all mutant alleles of ANGPTL3 and ANGPTL4 that were associated with low plasma TG levels interfered either with the synthesis or secretion of the protein or with the ability of the ANGPTL protein to inhibit LPL. A total of 1% of the Dallas Heart Study population and 4% of those participants with a plasma TG in the lowest quartile had a rare loss-of-function mutation in ANGPTL3, ANGPTL4, or ANGPTL5. Thus, ANGPTL3, ANGPTL4, and ANGPTL5, but not ANGPTL6, play nonredundant roles in TG metabolism, and multiple alleles at these loci cumulatively contribute to variability in plasma TG levels in humans., Introduction In individuals consuming Western diets, more than 100 grams of triglycerides (TGs) are transported each day from the liver and small intestines to peripheral tissues. The partitioning of TG [...]

Published
2009

166. Exome-Wide Association Study on Alanine Aminotransferase Identifies Sequence Variants in the GPAM and APOE Associated With Fatty Liver Disease

Author

Jamialahmadi, Oveis, primary, Mancina, Rosellina Margherita, additional, Ciociola, Ester, additional, Tavaglione, Federica, additional, Luukkonen, Panu K., additional, Baselli, Guido, additional, Malvestiti, Francesco, additional, Thuillier, Dorothée, additional, Raverdy, Violeta, additional, Männistö, Ville, additional, Pipitone, Rosaria Maria, additional, Pennisi, Grazia, additional, Prati, Daniele, additional, Spagnuolo, Rocco, additional, Petta, Salvatore, additional, Pihlajamäki, Jussi, additional, Pattou, François, additional, Yki-Järvinen, Hannele, additional, Valenti, Luca, additional, and Romeo, Stefano, additional

Published
2021
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167. Non-invasive stratification of hepatocellular carcinoma risk in non-alcoholic fatty liver using polygenic risk scores

Author

Bianco, Cristiana, primary, Jamialahmadi, Oveis, additional, Pelusi, Serena, additional, Baselli, Guido, additional, Dongiovanni, Paola, additional, Zanoni, Irene, additional, Santoro, Luigi, additional, Maier, Silvia, additional, Liguori, Antonio, additional, Meroni, Marica, additional, Borroni, Vittorio, additional, D’Ambrosio, Roberta, additional, Spagnuolo, Rocco, additional, Alisi, Anna, additional, Federico, Alessandro, additional, Bugianesi, Elisabetta, additional, Petta, Salvatore, additional, Miele, Luca, additional, Vespasiani-Gentilucci, Umberto, additional, Anstee, Quentin M., additional, Stickel, Felix, additional, Hampe, Jochen, additional, Fischer, Janett, additional, Berg, Thomas, additional, Fracanzani, Anna Ludovica, additional, Soardo, Giorgio, additional, Reeves, Helen, additional, Prati, Daniele, additional, Romeo, Stefano, additional, and Valenti, Luca, additional

Published
2021
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168. Disease-specific eQTL screening reveals an anti-fibrotic effect of AGXT2 in nonalcoholic fatty liver disease

Author

Yoo, Taekyeong, primary, Joo, Sae Kyung, additional, Kim, Hyo Jung, additional, Kim, Hyun Young, additional, Sim, Hyungtai, additional, Lee, Jieun, additional, Kim, Hee-Hoon, additional, Jung, Sunhee, additional, Lee, Youngha, additional, Jamialahmadi, Oveis, additional, Romeo, Stefano, additional, Jeong, Won-Il, additional, Hwang, Geum-Sook, additional, Kang, Keon Wook, additional, Kim, Jae Woo, additional, Kim, Won, additional, and Choi, Murim, additional

Published
2021
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169. LEPTIN, RESISTIN, AND PCSK9 - THE ROLE OF STAT3

Author

Macchi, Chiara, Greco, Maria Francesca, Botta, Margherita, Sperandeo, Paola, Dongiovanni, Paola, Valenti, Luca, Cicero, Arrigo F G, Borghi, Claudio, Lupo, Maria Giovanna, Romeo, Stefano, Corsini, Alberto, Magni, Paolo, Ferri, Nicola, and Ruscica, Massimiliano

Subjects
PCSK9, STAT3, leptin, resistin
Published
2020

170. Additional file 1 of Lycopene and bone: an in vitro investigation and a pilot prospective clinical study

Author

Russo, Cristina, Ferro, Yvelise, Maurotti, Samantha, Salvati, Maria, Mazza, Elisa, Pujia, Roberta, Terracciano, Rosa, Maggisano, Giuseppina, Mare, Rosario, Giannini, Sandro, Romeo, Stefano, Pujia, Arturo, and Montalcini, Tiziana

Abstract

Additional file 1: Table S1. Real-Time primer sequences. Table S2. Baseline demographic and clinical characteristics of participants according to intervention.

Published
2020
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171. WED-549 - Programmed cell death 1 genetic variant and liver damage in non-alcoholic fatty liver disease

Author

Pennisi, Grazia, Pipitone, Rosaria Maria, Malvestiti, Francesco, Jamialahmadi, Oveis, Dongiovanni, Paola, Bertolazzi, Giorgio, Pihlajamaki, Jussi, Yki-Järvinen, Hannele, Gentilucci, Umberto Vespasiani, Tavaglione, Federica, Maurotti, Samantha, Bianco, Cristiana, Di Maria, Gabriele, Enea, Marco, Fracanzani, Anna Ludovica, Kärjä, Vesa, Lupo, Giulia, Männistö, Ville, Meroni, Marica, Piciotti, Roberto, Qadri, Sami, Zito, Rossella, Craxi, Antonio, Di Marco, Vito, Camma, Calogero, Tripodo, Claudio, Valenti, Luca, Romeo, Stefano, Petta, Salvatore, and Grimaudo, Stefania

Published
2023
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174. rs641738C>T near MBOAT7 promotes steatosis, NASH, fibrosis and hepatocellular carcinoma in non-alcoholic fatty liver disease: a meta-analysis

Author

Teo, Kevin, Abeysekera, Kushala WM, Adams, Leon, Aigner, Elmar, Banerjee, Rajarshi, Basu, Priyadarshi, Berg, Thomas, Bhatnagar, Pallav, Buch, Stephan, Canbay, Ali, Caprio, Sonia, Chatterjee, Ankita, Chen, Yii-Der Ida, Datz, Christian, de Gracia Hahn, Dana, DiStefano, Johanna K, Dong, Jiawen, Duret, Amedine, Emdin, Connor, Fairey, Madison, Gerhard, Glenn S, Guo, Xiuqing, Hampe, Jochen, Hickman, Matthew, Heintz, Lena, Hudert, Christian, Hunter, Harriet, Kelly, Matt, Kozlitina, Julia, Krawczyk, Marcin, Lammert, Frank, Langenberg, Claudia, Lavine, Joel, Lim, Hong Kai, Luukkonen, Panu, Melton, Philip E, Mori, Trevor A, Parisinos, Constantinos A, Pillai, Sreekumar G, Qayyum, Faiza, Reichert, Matthias C, Romeo, Stefano, Rotter, Jerome, Im, Yu Ri, Santoro, Nicola, Schafmayer, Clemens, Speliotes, Elizabeth K, Stender, Stefan, Stickel, Felix, Still, Christopher D, Strnad, Pavel, Taylor, Kent D, Tybjaerg-Hansen, Anne, Umano, Giuseppina Rosaria, Utukuri, Mrudula, Valenti, Luca, Wareham, Nicholas J, Wattacheril, Julia, Yki-Jarvinen, Hannele, and Mann, Jake P

Abstract

A common genetic variant near MBOAT7 (rs641738C>T) has been previously associated with hepatic fat and advanced histology in non-alcoholic fatty liver disease (NAFLD), however, these findings have not been consistently replicated in the literature. Therefore, we aimed to establish whether rs641738 is a risk factor for NAFLD through meta-analysis. Data from 134,015 participants (7,692 with liver biopsies and 50,680 with imaging) was included in the meta-analysis. The minor T-allele of rs641738C>T was associated with higher liver fat on CT/MRI using an additive genetic model (+0.05 standard deviations [95% CI: 0.01 - 0.09], p=0.025), and with an increased risk of NAFLD (per-allele OR: 1.08 [95% CI: 1.01 - 1.15]), nonalcoholic steatohepatitis (OR: 1.11 [95% CI: 1.02 - 1.21]), advanced fibrosis (OR: 1.14 [95% CI: 1.05 - 1.23]), and hepatocellular carcinoma (OR: 1.43 [95% CI: 1.22 - 1.67]) in adults with NAFLD. Sub-group analysis did not demonstrate a difference in Caucasians and non-Caucasians. Rs641738C>T was not associated with markers of insulin resistance but was associated with higher risk of stroke in the UK Biobank. These data validate rs641738C>T near MBOAT7 as a risk factor for the development, activity, and stage of NAFLD including hepatocellular carcinoma.

Published
2019
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177. Rare Atg7 Genetic Variants Predispose to Severe Fatty Liver Disease

Author

Baselli, Guido, primary, Pelusi, Serena, additional, Ciociola, Ester, additional, Dongiovanni, Paola, additional, Maggioni, Marco, additional, Bianco, Cristiana, additional, Tavaglione, Federica, additional, Cespiati, Annalisa, additional, Mancina, Rosellina Margherita, additional, Malvestiti, Francesco, additional, Costanza, Jole, additional, D&apos;Ambrosio, Roberta, additional, Petta, Salvatore, additional, Miele, Luca, additional, Vespasiani, Umberto, additional, Federico, Alessandro, additional, Pihlajamaki, Jussi, additional, Bugianesi, Elisabetta, additional, Fracanzani, Anna Ludovica, additional, Reeves, Helen, additional, Soardo, Giorgio, additional, Prati, Daniele, additional, Investigators, EPIDEMIC Study, additional, Romeo, Stefano, additional, and Valenti, Luca, additional

Published
2021
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178. rs641738C>T near MBOAT7 is associated with liver fat, ALT and fibrosis in NAFLD: A meta-analysis

Author

Teo, Kevin, primary, Abeysekera, Kushala W.M., additional, Adams, Leon, additional, Aigner, Elmar, additional, Anstee, Quentin M., additional, Banales, Jesus M., additional, Banerjee, Rajarshi, additional, Basu, Priyadarshi, additional, Berg, Thomas, additional, Bhatnagar, Pallav, additional, Buch, Stephan, additional, Canbay, Ali, additional, Caprio, Sonia, additional, Chatterjee, Ankita, additional, Ida Chen, Yii-Der, additional, Chowdhury, Abhijit, additional, Daly, Ann K., additional, Datz, Christian, additional, de Gracia Hahn, Dana, additional, DiStefano, Johanna K., additional, Dong, Jiawen, additional, Duret, Amedine, additional, Emdin, Connor, additional, Fairey, Madison, additional, Gerhard, Glenn S., additional, Guo, Xiuqing, additional, Hampe, Jochen, additional, Hickman, Matthew, additional, Heintz, Lena, additional, Hudert, Christian, additional, Hunter, Harriet, additional, Kelly, Matt, additional, Kozlitina, Julia, additional, Krawczyk, Marcin, additional, Lammert, Frank, additional, Langenberg, Claudia, additional, Lavine, Joel, additional, Li, Lin, additional, Lim, Hong Kai, additional, Loomba, Rohit, additional, Luukkonen, Panu K., additional, Melton, Phillip E., additional, Mori, Trevor A., additional, Palmer, Nicholette D., additional, Parisinos, Constantinos A., additional, Pillai, Sreekumar G., additional, Qayyum, Faiza, additional, Reichert, Matthias C., additional, Romeo, Stefano, additional, Rotter, Jerome I., additional, Im, Yu Ri, additional, Santoro, Nicola, additional, Schafmayer, Clemens, additional, Speliotes, Elizabeth K., additional, Stender, Stefan, additional, Stickel, Felix, additional, Still, Christopher D., additional, Strnad, Pavel, additional, Taylor, Kent D., additional, Tybjærg-Hansen, Anne, additional, Umano, Giuseppina Rosaria, additional, Utukuri, Mrudula, additional, Valenti, Luca, additional, Wagenknecht, Lynne E., additional, Wareham, Nicholas J., additional, Watanabe, Richard M., additional, Wattacheril, Julia, additional, Yaghootkar, Hanieh, additional, Yki-Järvinen, Hannele, additional, Young, Kendra A., additional, Mann, Jake P., additional, Vreugdenhil, Anita, additional, Alisi, Anna, additional, Socha, Piotr, additional, Jańczyk, Wojciech, additional, Baumann, Ulrich, additional, Rajwal, Sanjay, additional, van Mourik, Indra, additional, Lacaille, Florence, additional, Dabbas, Myriam, additional, Kelly, Deirdre A., additional, Nobili, Valerio, additional, Eiriksdottir, Gudny, additional, Garcia, Melissa E., additional, Gudnason, Vilmundur, additional, Harris, Tamara B., additional, Kim, Lauren J., additional, Launer, Lenore J., additional, Nalls, Michael A., additional, Smith, Albert V., additional, Clark, Jeanne M., additional, Hernaez, Ruben, additional, Kao, W.H. Linda, additional, Mitchell, Braxton D., additional, Shuldiner, Alan R., additional, Yerges-Armstrong, Laura M., additional, Borecki, Ingrid B., additional, Carr, J. Jeffrey, additional, Feitosa, Mary F., additional, Wu, Jun, additional, Butler, Johannah L., additional, Fox, Caroline S., additional, Hirschhorn, Joel N., additional, Hoffmann, Udo, additional, Hwang, Shih-Jen, additional, Massaro, Joseph M., additional, O'Donnell, Christopher J., additional, Palmer, Cameron D., additional, and Sahani, Dushyant V., additional

Published
2021
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179. The adiponectin gene SNP+276G>T associates with early-onset coronary artery disease and with lower levels of adiponectin in younger coronary artery disease patients (age [less than or equal to]50 years)

Author

Filippi, Emanuela, Sentinelli, Federica, Romeo, Stefano, Arca, Marcello, Berni, Andrea, Tiberti, Claudio, Verrienti, Antonella, Fanelli, Marzia, Fallarino, Mara, Sorropago, Giovanni, and Baroni, Marco Giorgio

Subjects
Coronary heart disease -- Genetic aspects, Science and technology
Published
2005

180. Effects of TM6SF2 E167K on hepatic lipid and very low-density lipoprotein metabolism in humans

Author

Borén, Jan, primary, Adiels, Martin, additional, Björnson, Elias, additional, Matikainen, Niina, additional, Söderlund, Sanni, additional, Rämö, Joel, additional, Ståhlman, Marcus, additional, Ripatti, Pietari, additional, Ripatti, Samuli, additional, Palotie, Aarno, additional, Mancina, Rosellina M., additional, Hakkarainen, Antti, additional, Romeo, Stefano, additional, Packard, Chris J., additional, and Taskinen, Marja-Riitta, additional

Published
2020
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181. Reply

Author

Tavaglione, Federica, De Vincentis, Antonio, Jamialahmadi, Oveis, Vespasiani-Gentilucci, Umberto, and Romeo, Stefano

Published
2023
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184. The IRS1 rs2943641 Variant and Risk of Future Cancer Among Morbidly Obese Individuals

Author

Maglio, Cristina, Ericson, Ulrika, Burza, Maria Antonella, Mancina, Rosellina Margherita, Pirazzi, Carlo, Assarsson, Johanna Andersson, Sjöholm, Kajsa, Baroni, Marco Giorgio, Svensson, Per-Arne, Montalcini, Tiziana, Pujia, Arturo, Sjöström, Lars, Wiklund, Olov, Carlsson, Lena M. S., Borén, Jan, Orho-Melander, Marju, and Romeo, Stefano

Published
2013

190. PCSK9 rs11591147 R46L loss‐of‐function variant protects against liver damage in individuals with NAFLD

Author

Grimaudo, Stefania, primary, Bartesaghi, Stefano, additional, Rametta, Raffaela, additional, Marra, Fabio, additional, Margherita Mancina, Rosellina, additional, Pihlajamäki, Jussi, additional, Kakol‐Palm, Dorota, additional, Andréasson, Anne‐Christine, additional, Dongiovanni, Paola, additional, Ludovica Fracanzani, Anna, additional, Lori, Giulia, additional, Männistö, Ville, additional, Pellegrini, Giovanni, additional, Bohlooly‐Y, Mohammad, additional, Pennisi, Grazia, additional, Maria Pipitone, Rosaria, additional, Spagnuolo, Rocco, additional, Craxì, Antonio, additional, Lindén, Daniel, additional, Valenti, Luca, additional, Romeo, Stefano, additional, and Petta, Salvatore, additional

Published
2020
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192. Discovery and Targeting of the Signaling Controls of PNPLA3 to Effectively Reduce Transcription, Expression, and Function in Pre-Clinical NAFLD/NASH Settings

Author

Schwartz, Brian E., primary, Rajagopal, Vaishnavi, additional, Smith, Cynthia, additional, Cohick, Evan, additional, Whissell, Gavin, additional, Gamboa, Mario, additional, Pai, Rutuja, additional, Sigova, Alla, additional, Grossman, Iris, additional, Bumcrot, David, additional, Sasidharan, Kavitha, additional, Romeo, Stefano, additional, Sehgal, Alfica, additional, and Pingitore, Piero, additional

Published
2020
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197. Macrophage scavenger receptor 1 mediates lipid-induced inflammation in human obesity-related non-alcoholic fatty liver disease

Author

Govaere, Olivier, primary, Martinez-Lopez, Nuria, additional, Petersen, Sine K., additional, Mancina, Rosellina, additional, Lassen, Pierre Bel, additional, Darlay, Rebecca, additional, Peltier, Julien, additional, Younes, Ramy, additional, Tiniakos, Dina, additional, Aithal, Guruprasad, additional, Allison, Michael, additional, Yki-Järvinen, Hannele, additional, Dufour, Jean-François, additional, Ekstedt, Mattias, additional, Francque, Sven, additional, Petta, Salvatore, additional, Bugianesi, Elisabetta, additional, Schattenberg, Jörn M., additional, Day, Chris, additional, Cordell, Heather, additional, Clément, Karine, additional, Romeo, Stefano, additional, Ratziu, Vlad, additional, Daly, Ann K., additional, Anstee, Quentin, additional, Trost, Matthias, additional, and Hartlova, Anetta S., additional

Published
2020
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198. Validation of interleukin-32 as a new circulating fatty liver biomarker

Author

Baselli, Guido Alessandro, primary, Dongiovanni, Paola, additional, Rametta, Raffaela, additional, Meroni, Marica, additional, Pelusi, Serena, additional, Maggioni, Marco, additional, Badiali, Sara, additional, Pingitore, Piero, additional, Maurotti, Samantha, additional, Montalcini, Tiziana, additional, Taliento, Alice, additional, Prati, Daniele, additional, Rossi, Giorgio, additional, Fracanzani, Anna Ludovica, additional, Mancina, Rosellina, additional, Romeo, Stefano, additional, and Valenti, Luca, additional

Published
2020
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199. Genetic variants in the MTHFR are not associated with fatty liver disease

Author

De Vincentis, Antonio, primary, Mancina, Rosellina Margherita, additional, Pihlajamäki, Jussi, additional, Männistö, Ville, additional, Petta, Salvatore, additional, Dongiovanni, Paola, additional, Fracanzani, Anna Ludovica, additional, Valenti, Luca, additional, Tavaglione, Federica, additional, Romeo, Stefano, additional, and Vespasiani‐Gentilucci, Umberto, additional

Published
2020
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