Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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