|
rs964184
|
|
|
0.830 |
GeneticVariation |
BEFREE |
Sixteen SNPs were significantly associated with an increased risk of HTG development, with odds ratios (ORs) (95% confidence interval [CI]) varying from 1.40 (1.01-1.95) to 4.69 (3.29-6.68) (rs964184 within the APOA5 gene).
|
31222479 |
2019 |
|
rs964184
|
|
G |
0.830 |
GeneticVariation |
GWASCAT |
A common variant association study in ethnic Saudi Arabs reveals novel susceptibility loci for hypertriglyceridemia.
|
27599772 |
2017 |
|
rs964184
|
|
|
0.830 |
GeneticVariation |
BEFREE |
Multivariate logistic regression analysis with adjustment for age, gender and body mass index revealed that rs964184 of ZPR1 (P=5.1x10‑7; odds ratio, 1.37; dominant model), rs4845625 of IL6R (P=0.0019, odds ratio, 1.25; dominant model) and rs46522 of UBE2Z (P=0.0039, odds ratio, 1.19; dominant model) were significantly associated with hypertriglyceridemia, and that rs599839 of PSRC1 (P=0.0004, odds ratio, 0.70; dominant model) and rs2075650 of TOMM40 (P=0.0004, odds ratio, 1.43; dominant model) were significantly associated with hyper‑LDL‑cholesterolemia.
|
26238946 |
2015 |
|
rs964184
|
|
|
0.830 |
GeneticVariation |
BEFREE |
The G-G-A-A-C-C haplotype, carrying rs964184-G-allele, was associated with increased risk of HCH (OR: 1.35, 95% CI: 1.10, 1.66, P = 0.005) and HTG (OR: 1.75, 95% CI: 1.39, 2.21, P = 0.000).
|
24780069 |
2014 |
|
rs964184
|
|
|
0.830 |
GeneticVariation |
GWASDB |
Genomic study in Mexicans identifies a new locus for triglycerides and refines European lipid loci.
|
23505323 |
2013 |
|
rs964184
|
|
G |
0.830 |
GeneticVariation |
GWASDB |
Excess of rare variants in genes identified by genome-wide association study of hypertriglyceridemia.
|
20657596 |
2010 |
|
rs964184
|
|
G |
0.830 |
GeneticVariation |
GWASCAT |
Excess of rare variants in genes identified by genome-wide association study of hypertriglyceridemia.
|
20657596 |
2010 |
|
rs2075291
|
|
|
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 |
|
rs2075291
|
|
|
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 |
|
rs2075291
|
|
|
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 |
|
rs2075291
|
|
|
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 |
|
rs2075291
|
|
|
0.080 |
GeneticVariation |
BEFREE |
Aberrant hetero-disulfide bond formation by the hypertriglyceridemia-associated p.Gly185Cys APOA5 variant (rs2075291).
|
25127531 |
2014 |
|
rs2075291
|
|
|
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 |
|
rs2075291
|
|
|
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 |
|
rs2075291
|
|
|
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 |
|
rs149808404
|
|
|
0.020 |
GeneticVariation |
BEFREE |
We describe a case of a 36-year-old woman with severe hypertriglyceridemia likely caused by double heterozygosity of a known pathogenic APOA5 nonsense variant (p.Q275X) and a novel CREB3L3 nonsense variant (p.C296X) on a background of very strong polygenic susceptibility.
|
29954705 |
2019 |
|
rs149808404
|
|
|
0.020 |
GeneticVariation |
BEFREE |
We describe the clinical features and genetic analysis of three patients with severe hypertriglyceridaemia including novel mutations LPL c.464T>C (p.Leu155Pro) and APOA5 c.823C>T (p.Gln275*).
|
24591733 |
2014 |
|
rs777046568
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We report a novel homozygous apolipoprotein A5 (APOA5) frameshift mutation (c.G425del-C, p.Arg143AlafsTer57) identified in a 12-year-old boy of Pakistani origin with severe hypertriglyceridemia (up to 35 mmol/L) and type V hyperlipoproteinemia.
|
27678447 |
2017 |
|
rs774006043
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We also found that A/G + G/G genotypes of the 668 A/G polymorphism in the LEPR gene with an intake ≥ 12 g/d of saturated fatty acids, have 2.9 times higher risk of obesity (p = 0.002), 3.8 times higher risk of hypercholesterolemia (p = 0.002) and 2.4 times higher risk of hypertriglyceridemia (p = 0.02), than those with an intake <12 g/d of saturated fatty acids.
|
26365669 |
2015 |
|
rs574363219
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Hypertriglyceridemia and pancreatitis in a patient with apolipoprotein E7 (p.[E244K; E245K])/E4.
|
24925168 |
2014 |
|
rs201079485
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The Q97X mutation of the APOA5 gene in homozygous status is responsible for the severe hypertriglyceridemia in this family.
|
23151256 |
2012 |
|
rs143292359
|
|
|
0.010 |
GeneticVariation |
BEFREE |
APOA5 Ala315>Val does not play any dominant/important role in the genetic determination of plasma TG levels, but the increased frequency in HTG patients compared to controls suggests that it might interact with other gene variants to cause HTG.
|
18601597 |
2008 |