rs116843064, ANGPTL4

N. diseases: 16
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Coronary Artery Disease
CUI: C1956346
Disease: Coronary Artery Disease
0.710 GeneticVariation BEFREE Carriers of E40K and other inactivating mutations in ANGPTL4 had lower levels of triglycerides and a lower risk of coronary artery disease than did noncarriers. 26933753 2016
Arteriosclerosis
CUI: C0003850
Disease: Arteriosclerosis
0.030 GeneticVariation BEFREE We examined whether dietary macronutrient intake modified associations between ANGPTL4[E40K] variation and TG and HDL-C in White men and women from the Atherosclerosis Risk in Communities study. 18599063 2009
Cardiovascular Diseases
CUI: C0007222
Disease: Cardiovascular Diseases
0.030 GeneticVariation BEFREE So, T266M and E40K polymorphism predicts cardiovascular disease risk in Type 2 diabetic Tunisian population. 27004807 2016
Atherosclerosis
CUI: C0004153
Disease: Atherosclerosis
0.030 GeneticVariation BEFREE The prospective, population-based Atherosclerosis Risk in Communities Study measured the E40K ANGPTL4 variant in approximately 10000 white participants and determined its association with coronary heart disease (CHD) incidence (n = 1318 events) between 1987-1989 and 2004. 18940399 2008
Coronary heart disease
CUI: C0010068
Disease: Coronary heart disease
0.030 GeneticVariation BEFREE The prospective, population-based Atherosclerosis Risk in Communities Study measured the E40K ANGPTL4 variant in approximately 10000 white participants and determined its association with coronary heart disease (CHD) incidence (n = 1318 events) between 1987-1989 and 2004. 18940399 2008
Atherosclerosis
CUI: C0004153
Disease: Atherosclerosis
0.030 GeneticVariation BEFREE We examined whether dietary macronutrient intake modified associations between ANGPTL4[E40K] variation and TG and HDL-C in White men and women from the Atherosclerosis Risk in Communities study. 18599063 2009
Cardiovascular Diseases
CUI: C0007222
Disease: Cardiovascular Diseases
0.030 GeneticVariation BEFREE Conflicting results have been obtained regarding whether the E40K variant (a loss-of-function mutation of Angptl4) is associated with an increased risk for cardiovascular disease, which may occur due to the lipid-independent actions of Angptl4. 19851103 2010
Coronary heart disease
CUI: C0010068
Disease: Coronary heart disease
0.030 GeneticVariation BEFREE Carriers of E40K and other inactivating mutations in ANGPTL4 had lower levels of triglycerides and a lower risk of coronary artery disease than did noncarriers. 26933753 2016
Arteriosclerosis
CUI: C0003850
Disease: Arteriosclerosis
0.030 GeneticVariation BEFREE The prospective, population-based Atherosclerosis Risk in Communities Study measured the E40K ANGPTL4 variant in approximately 10000 white participants and determined its association with coronary heart disease (CHD) incidence (n = 1318 events) between 1987-1989 and 2004. 18940399 2008
Cardiovascular Diseases
CUI: C0007222
Disease: Cardiovascular Diseases
0.030 GeneticVariation BEFREE An E40K loss-of-function variant in the ANGPTL4 gene is associated with substantially reduced plasma triglyceride levels in white persons, but its association with cardiovascular disease occurrence has not been reported. 18940399 2008
Arteriosclerosis
CUI: C0003850
Disease: Arteriosclerosis
0.030 GeneticVariation BEFREE Longitudinal changes in triglycerides according to ANGPTL4[E40K] genotype and longitudinal body weight change in the atherosclerosis risk in communities study. 18809343 2008
Coronary heart disease
CUI: C0010068
Disease: Coronary heart disease
0.030 GeneticVariation BEFREE Circulating Angptl4 levels may not influence TG levels or CHD risk for the following reasons: (1) Angptl4 levels were not correlated with TGs; (2) T266M, although associated with Angptl4 levels, showed no association with plasma TGs; and (3) TG-lowering E40K did not influence Angptl4 levels. 20829508 2010
Atherosclerosis
CUI: C0004153
Disease: Atherosclerosis
0.030 GeneticVariation BEFREE Longitudinal changes in triglycerides according to ANGPTL4[E40K] genotype and longitudinal body weight change in the atherosclerosis risk in communities study. 18809343 2008
Metabolic Syndrome X
CUI: C0524620
Disease: Metabolic Syndrome X
0.020 GeneticVariation BEFREE The G allele at the rs116843064 polymorphic locus of the ANGPTL4 gene was associated with a lower prevalence of MetS. 31164103 2019
Diabetes Mellitus, Non-Insulin-Dependent
0.020 GeneticVariation BEFREE Carriers of p.E40K, a variant that abolishes ANGPTL4 ability to inhibit lipoprotein lipase, have lower odds of T2D (odds ratio 0.89, 95% confidence interval 0.85-0.92, p = 6.3 × 10<sup>-10</sup>), lower fasting glucose, and greater insulin sensitivity. 29899519 2018
Obesity
CUI: C0028754
Disease: Obesity
0.020 GeneticVariation BEFREE The objective of this study was to determine whether ANGPTL4 E40K and T266M are associated with triglyceride levels in the setting of obesity and T2D, and whether modification of triglyceride levels by these genetic variants is altered by a lifestyle intervention designed to treat T2D. 21714923 2011
Obesity
CUI: C0028754
Disease: Obesity
0.020 GeneticVariation BEFREE The objective of this study was to investigate the association of ANGPTL4 variants (E40K and T266M) with triglyceride levels and with cardiovascular risk factors, such as metabolic syndrome (MetS) and obesity in type 2 diabetic Tunisian population. 27004807 2016
Diabetes Mellitus, Non-Insulin-Dependent
0.020 GeneticVariation BEFREE We investigated the effect of the tagging single nucleotide polymorphisms (SNPs) rs1044250 (T266M) and rs116843064 (E40K) with triglyceride (TG) levels and CAD risk factors in a cohort of 220 patients undergoing coronary angiography for the evaluation of stable CAD, all of whom had (type 2 diabetes) T2D and were at least overweight. 27004807 2016
Metabolic Syndrome X
CUI: C0524620
Disease: Metabolic Syndrome X
0.020 GeneticVariation BEFREE The objective of this study was to investigate the association of ANGPTL4 variants (E40K and T266M) with triglyceride levels and with cardiovascular risk factors, such as metabolic syndrome (MetS) and obesity in type 2 diabetic Tunisian population. 27004807 2016
Coronary Arteriosclerosis
CUI: C0010054
Disease: Coronary Arteriosclerosis
0.010 GeneticVariation BEFREE Carriers of E40K and other inactivating mutations in ANGPTL4 had lower levels of triglycerides and a lower risk of coronary artery disease than did noncarriers. 26933753 2016
PLASMA TRIGLYCERIDE LEVEL QUANTITATIVE TRAIT LOCUS
0.700 GeneticVariation CLINVAR
Coronary Artery Disease
CUI: C1956346
Disease: Coronary Artery Disease
0.710 GeneticVariation GWASCAT Association analyses based on false discovery rate implicate new loci for coronary artery disease. 28714975 2017
Coronary Artery Disease
CUI: C1956346
Disease: Coronary Artery Disease
0.710 GeneticVariation GWASCAT Identification of 64 Novel Genetic Loci Provides an Expanded View on the Genetic Architecture of Coronary Artery Disease. 29212778 2018
High density lipoprotein measurement
0.700 GeneticVariation GWASCAT Common, low-frequency, and rare genetic variants associated with lipoprotein subclasses and triglyceride measures in Finnish men from the METSIM study. 29084231 2017
High density lipoprotein measurement
0.700 GeneticVariation GWASCAT The impact of low-frequency and rare variants on lipid levels. 25961943 2015