Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs200222843
rs200222843
0.010 GeneticVariation BEFREE Apolipoprotein B-100 Hopkins (arginine4019----tryptophan). A new apolipoprotein B-100 variant in a family with premature atherosclerosis and hyperapobetalipoproteinemia. 2778934

1989

dbSNP: rs268
rs268
LPL
0.030 GeneticVariation BEFREE We investigated associations of LPL polymorphisms (HindIII, PvuII, Ser447-->Ter) and the newly described mutation Asn291-->Ser with the risk of myocardial infarction (MI), severity of atherosclerosis, and fasting plasma lipoprotein concentrations in the ECTIM study (614 patients and 733 controls). 8576640

1995

dbSNP: rs268
rs268
LPL
0.030 GeneticVariation BEFREE We now show in approximately 1 in 20 males with proven atherosclerosis that an Asn291Ser mutation in the human lipoprotein lipase (LPL) gene is associated with significantly reduced HDL levels (P = 0.001) and results in a significant decrease in LPL catalytic activity (P < 0.0009). 7647785

1995

dbSNP: rs268
rs268
LPL
0.030 GeneticVariation BEFREE Lipoprotein lipase variants D9N and N291S are associated with increased plasma triglyceride and lower high-density lipoprotein cholesterol concentrations: studies in the fasting and postprandial states: the European Atherosclerosis Research Studies. 9264476

1997

dbSNP: rs267606661
rs267606661
0.010 GeneticVariation BEFREE In relatives of the proband, APOE R112; R251G was consistently found in subjects with both hyperlipidemia and atherosclerosis. 9360638

1997

dbSNP: rs1799945
rs1799945
0.040 GeneticVariation BEFREE To test whether genetic haemochromatosis is associated with increased atherosclerosis, we determined the prevalence of two mutations in the HFE gene related to haemochromatosis (845G-->A; Cys282Tyr. and 187 C-->G, His63Asp) in 265 consecutive patients with premature (<50 years of age) angiographically-proven atherosclerotic disease (coronary and/or peripheral), and in 272 healthy controls. 9753040

1998

dbSNP: rs11542041
rs11542041
0.030 GeneticVariation BEFREE Thus, comparisons between the 2/2 and 3/3 mice unequivocally demonstrate that a single amino acid difference (Arg158 Cys) in the apoE protein is sufficient to cause type III HLP and spontaneous atherosclerosis in mice. 9649566

1998

dbSNP: rs11542041
rs11542041
0.030 GeneticVariation BEFREE We have investigated the interaction of apolipoprotein E2(Arg158-Cys) (apoE2) and apolipoprotein E3-Leiden (apoE3-Leiden) with the very low density lipoprotein (VLDL) receptor in vivo and in vitro to define the possible role of this receptor in lipoprotein metabolism and atherosclerosis. 9445249

1998

dbSNP: rs879254693
rs879254693
0.010 GeneticVariation BEFREE We have investigated the interaction of apolipoprotein E2(Arg158-Cys) (apoE2) and apolipoprotein E3-Leiden (apoE3-Leiden) with the very low density lipoprotein (VLDL) receptor in vivo and in vitro to define the possible role of this receptor in lipoprotein metabolism and atherosclerosis. 9445249

1998

dbSNP: rs1799983
rs1799983
0.100 GeneticVariation BEFREE We examined associations between the endothelial nitric oxide synthase (eNOS) gene Glu-298-->Asp (894G-->T) mutation and the occurrence and severity of angiographically defined coronary artery disease (CAD). eNOS mediates basal vascular wall nitric oxide production, and altered nitric oxide production has been implicated in atherosclerosis. 10475066

1999

dbSNP: rs5361
rs5361
0.070 GeneticVariation BEFREE Functional characterization of atherosclerosis-associated Ser128Arg and Leu554Phe E-selectin mutations. 10430030

1999

dbSNP: rs1458766475
rs1458766475
0.060 GeneticVariation BEFREE Functional characterization of atherosclerosis-associated Ser128Arg and Leu554Phe E-selectin mutations. 10430030

1999

dbSNP: rs5355
rs5355
0.020 GeneticVariation BEFREE Functional characterization of atherosclerosis-associated Ser128Arg and Leu554Phe E-selectin mutations. 10430030

1999

dbSNP: rs5882
rs5882
0.020 GeneticVariation BEFREE The effects of two common polymorphisms of CETP, TaqIB in intron 1 and isoleucine 405 to valine (I405-->V) in exon 14, were examined in a sample of 822 men age 18-28 years from 11 countries in Europe who had participated in a study (the European Atherosclerosis Research Study II) of the offspring of myocardial infarction sufferers before the age of 55 years and age-matched control subjects. 10092998

1999

dbSNP: rs699
rs699
AGT
0.020 GeneticVariation BEFREE A missense gene mutation with methione-to-threonine amino acid substitution at codon 235 (M235T) of angiotensinogen (AGT) has been associated with higher plasma AGT levels and may influence the pathogenesis of cardiac hypertrophy and atherosclerosis. 10342781

1999

dbSNP: rs140808909
rs140808909
0.010 GeneticVariation BEFREE Characterization of apolipoprotein E7 (Glu(244)-->Lys, Glu(245)--->Lys), a mutant apolipoprotein E associated with hyperlipidemia and atherosclerosis. 9925654

1999

dbSNP: rs879254840
rs879254840
0.010 GeneticVariation BEFREE Characterization of apolipoprotein E7 (Glu(244)-->Lys, Glu(245)--->Lys), a mutant apolipoprotein E associated with hyperlipidemia and atherosclerosis. 9925654

1999

dbSNP: rs1217691063
rs1217691063
0.100 GeneticVariation BEFREE The C677T mutation in the methylenetetrahydrofolate reductase (MTHFR) gene is associated with reduced enzyme activity, hyperhomocysteinaemia and increased risk for atherosclerosis in homozygotes. 11094304

2000

dbSNP: rs1799945
rs1799945
0.040 GeneticVariation BEFREE The finding of a similar prevalence of Cys282Tyr and His63Asp mutations in the HFE gene among controls and patients with coronary atherothrombotic disease, indirectly questions the possibility of an association between hereditary hemochromatosis and atherosclerosis. 10719381

2000

dbSNP: rs11542041
rs11542041
0.030 GeneticVariation BEFREE Effect of macrophage-derived mouse ApoE, human ApoE3-Leiden, and human ApoE2 (Arg158-->Cys) on cholesterol levels and atherosclerosis in ApoE-deficient mice. 10634808

2000

dbSNP: rs1800562
rs1800562
0.030 GeneticVariation BEFREE The description of two mutations in the HFE gene (Cys282Tyr and His63Asp) related to hereditary hemochromatosis provides an opportunity to address the question of the association between iron overload and atherosclerosis. 10719381

2000

dbSNP: rs1346044
rs1346044
WRN
0.010 GeneticVariation BEFREE Polymorphisms at the Werner locus: II. 1074Leu/Phe, 1367Cys/Arg, longevity, and atherosclerosis. 11186893

2000

dbSNP: rs539179964
rs539179964
0.010 GeneticVariation BEFREE Polymorphisms at the Werner locus: II. 1074Leu/Phe, 1367Cys/Arg, longevity, and atherosclerosis. 11186893

2000

dbSNP: rs1799983
rs1799983
0.100 GeneticVariation BEFREE Reduced vasorelaxations were associated with increased number of clinical risk factors for atherosclerosis (r = - 0.54, P < 0.001), whereas the Glu298Asp variant was not associated with any differences in contractions to phenylephrine, NO-mediated vasorelaxations to acetylcholine, bradykinin or calcium ionophore, or relaxations to the NO donor sodium nitroprusside. 11298374

2001

dbSNP: rs5361
rs5361
0.070 GeneticVariation BEFREE Relationships between the E-selectin S128R polymorphism and coronary artery calcification (CAC), a marker of atherosclerosis detected with noninvasive electron beam computed tomography, were examined in 294 asymptomatic women aged 40--88 years and 314 asymptomatic men aged 30--80 years from the Epidemiology of Coronary Artery Calcification Study. 11466561

2001