|
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 |
GeneticVariation |
CLINVAR |
Systematic analysis of variants related to familial hypercholesterolemia in families with premature myocardial infarction.
|
26036859 |
2016 |
|
rs5742904
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Systematic analysis of variants related to familial hypercholesterolemia in families with premature myocardial infarction.
|
26036859 |
2016 |
|
rs5742904
|
|
|
0.800 |
GeneticVariation |
BEFREE |
In the majority of the cases FH is caused by mutations occurring within LDLR, while only few mutations in APOB and PCSK9 have been proved to cause disease. p.(Arg3527Gln) was the first mutation in APOB being identified and characterized.
|
26643808 |
2015 |
|
rs5742904
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Whole exome sequencing of familial hypercholesterolaemia patients negative for LDLR/APOB/PCSK9 mutations.
|
24987033 |
2014 |
|
rs5742904
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Although FH is usually caused by mutations in LDLR, mutations in APOB and PCSK9 also cause FH but only a few mutations have been reported, APOB p.R3527Q being the most common.
|
24234650 |
2014 |
|
rs5742904
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy.
|
23375686 |
2013 |
|
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
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
ApoB-100 R3500Q mutation in the Lebanese population: prevalence and historical review of the literature.
|
17160438 |
2007 |
|
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 |
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 |
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 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 |
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
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
High frequency of the ApoB-100 R3500Q mutation in Bulgarian hypercholesterolaemic subjects.
|
11494965 |
2001 |
|
rs5742904
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Familial defective apolipoprotein B-100 in a group of hypercholesterolaemic patients in Poland. Identification of a new mutation Thr3492Ile in the apolipoprotein B gene.
|
11781700 |
2001 |
|
rs5742904
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
The molecular mechanism for the genetic disorder familial defective apolipoprotein B100.
|
11115503 |
2001 |
|
rs5742904
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Autosomal dominant type IIa hypercholesterolemia: evaluation of the respective contributions of LDLR and APOB gene defects as well as a third major group of defects.
|
10952765 |
2000 |
|
rs5742904
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Eight (5.1%) unrelated individuals were found to be heterozygous for the FDB R3500Q mutation, including two (3.7%) of those 54 classified clinically as having FH.
|
10795369 |
1999 |
|
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
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Association of mutations in the apolipoprotein B gene with hypercholesterolemia and the risk of ischemic heart disease.
|
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
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Association between a specific apolipoprotein B mutation and familial defective apolipoprotein B-100.
|
2563166 |
1989 |
|
rs5742904
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
|
|
|