APOB, apolipoprotein B, 338

N. diseases: 339; N. variants: 122
Disease: Fatty Liver ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0015695
Disease: Fatty Liver
Fatty Liver 		0.700 GeneticVariation disease BEFREE Mutations impairing liver synthesis or secretion of apolipoprotein B are crucial to increase the risk of liver steatosis. 28733173 2018
CUI: C0015695
Disease: Fatty Liver
Fatty Liver 		0.700 GeneticVariation disease BEFREE Furthermore, the low-frequency E167K variant of TM6SF2 and rare mutations in APOB, which impair very low-density lipoproteins secretion, predispose to progressive fatty liver. 26409295 2016
CUI: C0015695
Disease: Fatty Liver
Fatty Liver 		0.700 AlteredExpression disease BEFREE Partial MTP inhibition using small molecule inhibitors, such as lomitapide, can effectively lower plasma low-density lipoprotein-cholesterol and apolipoprotein B levels, but is associated with gastrointestinal side effects and hepatic steatosis, whose long-term sequelae remain unclear; lomitapide has accordingly only been approved as a treatment for homozygous familial hypercholesterolemia. 25552696 2015
CUI: C0015695
Disease: Fatty Liver
Fatty Liver 		0.700 GeneticVariation disease BEFREE We used exome sequencing to discover a novel nonsense mutation in exon 26 of APOB (p.K2240X) responsible for low cholesterol and fatty liver in a large kindred. 23723369 2013
CUI: C0015695
Disease: Fatty Liver
Fatty Liver 		0.700 GeneticVariation disease BEFREE Hepatic fat export occurs by apolipoprotein B-100-containing lipoprotein production, whereas impaired production leads to liver steatosis. 22443280 2012
CUI: C0015695
Disease: Fatty Liver
Fatty Liver 		0.700 GeneticVariation disease BEFREE Liver biopsy of the apoB-13.7 heterozygote, which had obesity and insulin resistance, showed severe fatty liver. 18848826 2009
CUI: C0015695
Disease: Fatty Liver
Fatty Liver 		0.700 Biomarker disease RGD The influence of pharmacogenetics on fatty liver disease in the wistar and kyoto rats: a combined transcriptomic and metabonomic study. 17203948 2007
CUI: C0015695
Disease: Fatty Liver
Fatty Liver 		0.700 AlteredExpression disease BEFREE Familial hypobetalipoproteinaemia (FHBL) is a codominant disorder characterised by fatty liver and reduced plasma levels of low-density lipoprotein (LDL) and its protein constituent apolipoprotein B (apoB). 17158591 2007
CUI: C0015695
Disease: Fatty Liver
Fatty Liver 		0.700 AlteredExpression disease BEFREE Moreover, very low-density lipoprotein (VLDL) subclass analysis showed that the VLDL2 fraction of the fatty liver subgroup contained significantly less cholesterol and triglycerides (P = .02 for both parameters), which was likely explained by a decreased VLDL2 particle number because VLDL2 apolipoprotein B levels tended to be lower (P = .08). 17884438 2007
CUI: C0015695
Disease: Fatty Liver
Fatty Liver 		0.700 Biomarker disease CTD_human Abnormal hepatobiliary and circulating lipid metabolism in the Long-Evans Cinnamon rat model of Wilson's disease. 17303181 2007
CUI: C0015695
Disease: Fatty Liver
Fatty Liver 		0.700 Biomarker disease BEFREE We conclude that hepatic steatosis in apoB/BATless mice is associated with elevated rates of hepatic lipogenesis that are linked directly to increased hepatic expression of PPARgamma2. 16971390 2006
CUI: C0015695
Disease: Fatty Liver
Fatty Liver 		0.700 Biomarker disease BEFREE Fatty liver is common in apoB-defective FHBL. 15877300 2005
CUI: C0015695
Disease: Fatty Liver
Fatty Liver 		0.700 GeneticVariation disease BEFREE Fatty liver is frequent in the apolipoprotein B (apoB)-defective genetic form of familial hypobetalipoproteinemia (FHBL), but interindividual variability in liver fat is large. 14967820 2004
CUI: C0015695
Disease: Fatty Liver
Fatty Liver 		0.700 Biomarker disease CTD_human Enhanced GLUT2 gene expression in an oleic acid-induced in vitro fatty liver model. 12048068 2002
CUI: C0015695
Disease: Fatty Liver
Fatty Liver 		0.700 GeneticVariation disease BEFREE Familial hypobetalipoproteinemia (FHBL) is a genetically heterogeneous condition characterized by very low apolipoprotein B (apoB) concentrations in plasma and/or low levels of LDL-cholesterol (LDL-C) with a propensity to developing fatty liver. 11893777 2002
CUI: C0015695
Disease: Fatty Liver
Fatty Liver 		0.700 Biomarker disease BEFREE This study suggests that: i) fatty liver invariably develops in FHBL carriers of short and medium-size truncated apoBs (< apoB-48), but its occurrence needs additional environmental factors in carriers of longer apoB forms; ii) intestinal lipid malabsorption develops only in carriers of short truncated apoBs, which are not secreted into the plasma; and iii) cerebrovascular disease due to premature atherosclerosis may occur even in FHBL subjects. 11590210 2001
CUI: C0015695
Disease: Fatty Liver
Fatty Liver 		0.700 Biomarker disease HPO