1. Transmembrane 6 Superfamily Member 2 Gene Variant Disentangles Nonalcoholic Steatohepatitis From Cardiovascular Disease
- Author
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Enrico Mozzi, Jan Borén, Vesa Kärjä, Anna Ludovica Fracanzani, Lena M. S. Carlsson, Pirjo Käkelä, Tiziana Montalcini, Chao Xing, Bruno Dallapiccola, Salvatore Petta, Silvia Fargion, Raffaela Rametta, Lars Sjöström, Jussi Pihlajamäki, Luca Valenti, Antonio Craxì, Valerio Nobili, Anna Alisi, Marco Maggioni, Cristina Maglio, Vito Di Marco, Stefano Romeo, Dorota Kaminska, Rosaria Maria Pipitone, Stefania Grimaudo, Paola Dongiovanni, Benedetta Maria Motta, Serena Pelusi, Dongiovanni, P, Petta, S, Maglio, C, Fracanzani, A, Pipitone, R, Mozzi, E, Motta, B, Kaminska, D, Rametta, R, Grimaudo, S, Pelusi, S, Montalcini, T, Alisi, A, Maggioni, M, Kärjä, V, Borén, J, Käkelä, P, Di Marco, V, Xing, C, Nobili, V, Dallapiccola, B, Craxi, A, Pihlajamäki, J, Fargion, S, Sjöström, L, Carlsson, L, Romeo, S, and Valenti, L
- Subjects
medicine.medical_specialty ,Hepatology ,medicine.diagnostic_test ,business.industry ,Fatty liver ,Odds ratio ,medicine.disease ,Lower risk ,Endocrinology ,Internal medicine ,Liver biopsy ,Cohort ,medicine ,Steatosis ,NASH, TM6SF2 ,business ,TM6SF2 - Abstract
Excess hepatic storage of triglycerides is considered a benign condition, but nonalcoholic steatohepatitis (NASH) may progress to fibrosis and promote atherosclerosis. Carriers of the TM6SF2 E167K variant have fatty liver as a result of reduced secretion of very-low-density lipoproteins (VLDLs). As a result, they have lower circulating lipids and reduced risk of myocardial infarction. In this study, we aimed to assess whether TM6SF2 E167K affects liver damage and cardiovascular outcomes in subjects at risk of NASH. Liver damage was evaluated in 1,201 patients who underwent liver biopsy for suspected NASH; 427 were evaluated for carotid atherosclerosis. Cardiovascular outcomes were assessed in 1,819 controls from the Swedish Obese Subjects (SOS) cohort. Presence of the inherited TM6SF2 E167K variant was determined by TaqMan assays. In the liver biopsy cohort, 188 subjects (13%) were carriers of the E167K variant. They had lower serum lipid levels than noncarriers (P
- Published
- 2015