rs2075291, APOA5;ZPR1

N. diseases: 15
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
0.720 GeneticVariation BEFREE A genetic variant c.553G > T (rs2075291) in the apolipoprotein A5 gene is associated with altered triglycerides levels in coronary artery disease (CAD) patients with lipid lowering drug. 30606120 2019
Metabolic Syndrome X
CUI: C0524620
Disease: Metabolic Syndrome X
0.720 GeneticVariation GWASCAT Identification of female-specific genetic variants for metabolic syndrome and its component traits to improve the prediction of metabolic syndrome in females. 31170924 2019
Coronary Artery Disease
CUI: C1956346
Disease: Coronary Artery Disease
0.720 GeneticVariation BEFREE We identified a missense SNP, rs2075291, in APOA5 associated with CAD</span> at a genome-wide significance level and provided new insights into pathways contributing to the susceptibility to CAD in the multi-ethnic populations from Southeast Asia. 29263402 2017
Coronary Artery Disease
CUI: C1956346
Disease: Coronary Artery Disease
0.720 GeneticVariation GWASCAT We identified a missense SNP (rs2075291, G > T, G185C) in APOA5 for CAD that reached robust genome-wide significance (Meta P = 7.09 × 10<sup>-10</sup>, OR = 1.636). 29263402 2017
Metabolic Syndrome X
CUI: C0524620
Disease: Metabolic Syndrome X
0.720 GeneticVariation BEFREE It seems that APOA5 rs2075291 could play an important role in triglyceride and HDL-C level in metabolic syndrome affected, while the association of APOA5 rs662799 polymorphism is still under debate. 26702748 2016
Metabolic Syndrome X
CUI: C0524620
Disease: Metabolic Syndrome X
0.720 GeneticVariation BEFREE The chi(2) test and subsequent multivariate logistic regression analysis with adjustment for age, sex and smoking status found that the-3A-->G and 553G-->T (Gly185Cys) polymorphisms of APOA5, the 2052T-->C (Val653Val) and 1866C-->T (Asn591Asn) polymorphisms of LDLR, the 13989A-->G (Ile118Val) polymorphism of CYP3A4 and the 1014T-->A polymorphism of C1QTNF5 were significantly (false discovery rate <0.05) associated with the prevalence of metabolic syndrome, with the variant alleles of APOA5 and C1QTNF5 representing risk factors for and those of LDLR and CYP3A4 being protective against this condition. 17766366 2008
High density lipoprotein measurement
0.700 GeneticVariation GWASCAT Genetic analyses of diverse populations improves discovery for complex traits. 31217584 2019
Triglycerides measurement
CUI: C0202236
Disease: Triglycerides measurement
0.700 GeneticVariation GWASCAT The Korea Biobank Array: Design and Identification of Coding Variants Associated with Blood Biochemical Traits. 30718733 2019
Triglycerides measurement
CUI: C0202236
Disease: Triglycerides measurement
0.700 GeneticVariation GWASCAT Genetic analyses of diverse populations improves discovery for complex traits. 31217584 2019
High density lipoprotein measurement
0.700 GeneticVariation GWASCAT The Korea Biobank Array: Design and Identification of Coding Variants Associated with Blood Biochemical Traits. 30718733 2019
High density lipoprotein measurement
0.700 GeneticVariation GWASCAT A large electronic-health-record-based genome-wide study of serum lipids. 29507422 2018
Triglycerides measurement
CUI: C0202236
Disease: Triglycerides measurement
0.700 GeneticVariation GWASCAT A large electronic-health-record-based genome-wide study of serum lipids. 29507422 2018
HYPERTRIGLYCERIDEMIA, SUSCEPTIBILITY TO
0.700 SusceptibilityMutation CLINVAR
Hypertriglyceridemia
CUI: C0020557
Disease: Hypertriglyceridemia
0.080 GeneticVariation BEFREE In summary, magnolol could effectively lower the plasma triglyceride levels in APOA5 c.553G>T variant carrier mice and facilitate the triglyceride metabolism in postprandial hypertriglyceridemia. 29425239 2018
Hypertriglyceridemia
CUI: C0020557
Disease: Hypertriglyceridemia
0.080 GeneticVariation BEFREE The -1131T>C and c.553G>T polymorphisms were associated with hypertriglyceridemia in the study population, but only the -1131T>C polymorphism directly affected apoA5 concentrations. 29211729 2017
Hypertriglyceridemia
CUI: C0020557
Disease: Hypertriglyceridemia
0.080 GeneticVariation BEFREE To measure the correlation between the c.553G>T polymorphism and HTG susceptibility, odds ratios (ORs) and 95% confidence intervals (CIs) were calculated. 27813673 2016
Hypertriglyceridemia
CUI: C0020557
Disease: Hypertriglyceridemia
0.080 GeneticVariation BEFREE Only APOA5 c.553 G > T (rs2075291), resulting in the amino acid mutation Gly185Cys, co-segregated well with hypertriglyceridemia in terms of autosomal recessive inheritance (homozygote TT: mean triglyceride level: 1,071 mg/dL vs non TT (GT and GG): mean triglyceride level: 118 mg/dL; p < 0.001) in the index family. 25843152 2015
Hypertriglyceridemia
CUI: C0020557
Disease: Hypertriglyceridemia
0.080 GeneticVariation BEFREE Aberrant hetero-disulfide bond formation by the hypertriglyceridemia-associated p.Gly185Cys APOA5 variant (rs2075291). 25127531 2014
Hypertriglyceridemia
CUI: C0020557
Disease: Hypertriglyceridemia
0.080 GeneticVariation BEFREE Association of single-nucleotide polymorphism 3 and c.553G>T of APOA5 with hypertriglyceridemia after treatment with highly active antiretroviral therapy containing protease inhibitors in hiv-infected individuals in Taiwan. 19187029 2009
Hypertriglyceridemia
CUI: C0020557
Disease: Hypertriglyceridemia
0.080 GeneticVariation BEFREE The -1131T>C and c.553G>T (G185C) polymorphisms correlated with HTG in this Japanese population, but neither polymorphism directly affected ApoA5 expression. 17457003 2007
Hypertriglyceridemia
CUI: C0020557
Disease: Hypertriglyceridemia
0.080 GeneticVariation BEFREE These findings suggest the possible use of c.553G>T polymorphisms in APOA5 as prognostic indicators for hypertriglyceridemia susceptibility in Chinese. 12915450 2003
Arteriosclerosis
CUI: C0003850
Disease: Arteriosclerosis
0.020 GeneticVariation BEFREE Our results show that two APOA5 variants, rs662799 (-1131T>C) and rs2075291 (c.553G>T), are associated with HDL-cholesterol levels in a Korean population, and suggest that individuals with an APOA5 rs662799 CC genotype are at higher risk of atherosclerosis, particularly when they have low HDL-cholesterol, and this association is related to adiponectin levels. 30132804 2018
Atherosclerosis
CUI: C0004153
Disease: Atherosclerosis
0.020 GeneticVariation BEFREE Our results show that two APOA5 variants, rs662799 (-1131T>C) and rs2075291 (c.553G>T), are associated with HDL-cholesterol levels in a Korean population, and suggest that individuals with an APOA5 rs662799 CC genotype are at higher risk of atherosclerosis, particularly when they have low HDL-cholesterol, and this association is related to adiponectin levels. 30132804 2018
Myocardial Infarction
CUI: C0027051
Disease: Myocardial Infarction
0.020 GeneticVariation BEFREE Minor alleles of three commonly analysed variants within this gene (rs662799, rs3135506, rs2075291) are associated with higher plasma TG values and increased risk of myocardial infarction, with some important interethnic differences observed. 27496343 2016
Arteriosclerosis
CUI: C0003850
Disease: Arteriosclerosis
0.020 GeneticVariation BEFREE We investigated the associations of the APOA5 c.553G>T gene with various metabolic syndrome components and carotid artery atherosclerosis among family members. 19665689 2009