|
rs5742904
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Population studies suggest that approximately 0.1% of Northern Europeans and US Caucasians carries the R3500Q variant in APOB most commonly associated with FDB; in addition, the APOB R3500 W variant is known to make a significant contribution to familial hypercholesterolemia (FH) among East Asians.
|
27919345 |
2017 |
|
rs5742904
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Polygenic Versus Monogenic Causes of Hypercholesterolemia Ascertained Clinically.
|
27765764 |
2016 |
|
rs5742904
|
|
|
0.800 |
GeneticVariation |
BEFREE |
The FH chip contains the APOB mutation p.Arg3527Gln, all 89 LDLR point mutations and small DNA rearrangements detected in Czech FH patients, and 78 mutations frequent in other European and Asian FH populations.
|
21310417 |
2011 |
|
rs5742904
|
|
|
0.800 |
GeneticVariation |
BEFREE |
The R3500Q and R3531C mutations are absent in our probands and for 1 proband, the implication of LDLR, APOB and PCSK9 genes was excluded, supporting the implication of a fourth gene in the determination of FH.
|
16806138 |
2006 |
|
rs5742904
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Mutations in the LDL receptor (LDLR) gene and the R3500Q mutation in the apolipoprotein B (APOB) gene are known to cause FH, but lack of high-throughput methods makes routine genetic diagnosis difficult.
|
15890894 |
2005 |
|
rs5742904
|
|
|
0.800 |
GeneticVariation |
BEFREE |
In a previous study, we have shown that in patients with definite FH around 20% had no identifiable gene defect after screening the entire exon coding area of the low density lipoprotein receptor (LDLR) and testing for the common Apolipoprotein B (ApoB) R3500Q mutation.
|
16159606 |
2005 |
|
rs5742904
|
|
|
0.800 |
GeneticVariation |
BEFREE |
In this study, DNA sequencing of the 12 exons of the PCSK9 gene has been performed in 51 Norwegian subjects with a clinical diagnosis of familial hypercholesterolemia where mutations in the low-density lipoprotein receptor gene and mutation R3500Q in the apolipoprotein B-100 gene had been excluded.
|
15099351 |
2004 |
|
rs5742904
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Few data are available on genotype-phenotype interactions among familial hypercholesterolemia (FH) patients in South European populations and there are no data about the influence of R3500Q mutation on lipoprotein phenotype compared to low-density lipoprotein receptor (LDLR) mutations.
|
14508510 |
2003 |
|
rs5742904
|
|
|
0.800 |
GeneticVariation |
BEFREE |
In conclusion, the R3500Q mutation of the apolipoprotein B gene, a common cause of FH in central Europe, is infrequent in the general Spanish population, but it is common in Galicia.
|
12208478 |
2002 |
|
rs5742904
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Frequency of the R3500Q mutation of the apolipoprotein B-100 gene in a sample screened clinically for familial hypercholesterolemia in Hungary.
|
11137107 |
2001 |
|
rs5742904
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Heterozygous carriers of the Arg3500Gln mutation were significantly more common among patients with ischemic heart disease (odds ratio, 7.0; 95 percent confidence interval, 2.2 to 22; P=0.003) and patients with familial hypercholesterolemia (odds ratio, 78; 95 percent confidence interval, 16 to 388; P=0.001) than in the general population.
|
9603795 |
1998 |
|
rs5742904
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Hypercholesterolemia clustering in families not explained by either low density lipoprotein (LDL)-receptor mutations producing familial hypercholesterolemia (FH), or the apolipoprotein B (apo B) Arg3500-->Gln mutation with familial defective apo B (FDB), is common in the Finnish population.
|
9050776 |
1997 |
|
rs5742904
|
|
|
0.800 |
GeneticVariation |
BEFREE |
The apoB Arg3500-->Gln mutation was absent in 228 French Canadians with the FH phenotype.
|
7554246 |
1995 |
|
rs5742904
|
|
|
0.800 |
GeneticVariation |
BEFREE |
From a sample of 243 patients from Munich with type IIa hyperlipoproteinemia (HL), we have identified eight individuals with the apo B-100 arginine(3500)----glutamine mutation.
|
2164382 |
1990 |
|
rs144467873
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Polygenic Versus Monogenic Causes of Hypercholesterolemia Ascertained Clinically.
|
27765764 |
2016 |
|
rs12713559
|
|
|
0.030 |
GeneticVariation |
BEFREE |
The R3500Q and R3531C mutations are absent in our probands and for 1 proband, the implication of LDLR, APOB and PCSK9 genes was excluded, supporting the implication of a fourth gene in the determination of FH.
|
16806138 |
2006 |
|
rs12713559
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Therefore, our results show that the family presents with familial hypercholesterolemia and give evidence that the R3531C substitution in the APOB gene is not an allelic variant leading to FDB.
|
11031227 |
2000 |
|
rs12713559
|
|
|
0.030 |
GeneticVariation |
BEFREE |
The surprising result that only two mutations of apoB in the receptor-binding domain (Arg 3500 Gln and Arg 3531 Cys) were associated with defective LDL binding, hypercholesterolemia, or CAD is in stark contrast with familial hypercholesterolemia, where nearly 150 mutations of the LDL receptor have been described that disrupt its function.
|
9254062 |
1997 |
|
rs151009667
|
|
|
0.010 |
GeneticVariation |
BEFREE |
There was also no correlation between clinical characteristics and the rs151009667 polymorphism.In conclusion, we confirmed the association between the rs151009667 polymorphism and FH in a Saudi population.
|
30681615 |
2019 |
|
rs693
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In this case-control study, rs693 (in exon 26 of APOB) and rs515135 (5 'end of APOB) single nucleotide polymorphisms (SNPs) were analyzed in 120 cases of familial hypercholesterolemia and 120 controls.
|
30507093 |
2019 |
|
rs12720762
|
|
|
0.010 |
GeneticVariation |
BEFREE |
SNP rs12720762 in APOB gene is associated with the highest risk of FH (odds ratio 14.78, p<0.001).
|
23593297 |
2013 |
|
rs1226992086
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The two major rearrangements and the missense mutation G266C are novel mutations and could well be causative of FH in the Moroccan population.
|
12730724 |
2003 |
|
rs200353509
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In the present study, the association of the heterozygous forms of low-density lipoprotein receptor gene mutations causing FH as well as of LPL gene mutations causing (P207L and G188E) or not causing (D9N and N291S) complete loss of LPL activity with angiographically assessed CAD was estimated in a cohort of 412 French Canadian men aged <60 years who consecutively underwent coronary angiography for the investigation of retrosternal pain.
|
9708657 |
1998 |