Hypercholesterolemia, Familial
|
0.700 |
Biomarker
|
disease |
BEFREE |
The present study was conducted to investigate the association of APOB and patients with FH in a Saudi population.We genotyped 100 patients with FH and 100 controls for 2 polymorphisms in APOB using polymerase chain reaction-restriction fragment length polymorphism, followed by 3% agarose gel electrophoresis.
|
30681615 |
2019 |
Hypercholesterolemia, Familial
|
0.700 |
Biomarker
|
disease |
BEFREE |
The monogenic cause of FH includes apolipoprotein B (APOB), low-density lipoprotein receptor (LDLR), and proprotein convertase subtilisin/kexin 9 (PCSK9).
|
30949068 |
2019 |
Hypercholesterolemia, Familial
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The incidence rates of low-density lipoprotein receptor (LDLR) and apolipoprotein B (APOB) mutations were 82% and 9%, and proprotein convertase subtilisin/kexin type 9 (PCSK9) mutations were rare in Chinese patients with FH.
|
30876527 |
2019 |
Hypercholesterolemia, Familial
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Methods Out of 196 patients with clinically suspected FH (LDL-cholesterol [LDL-C] levels above 3.37 mmol/L, cholesterol level above 6.46 mmol/L in a first-degree relative or the presence of premature cardiovascular acute disease in a first/second-degree relative), we screened 164 index cases for mutations in the LDLR, APOB and PCSK9 genes.
|
30710474 |
2019 |
Hypercholesterolemia, Familial
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
A substantial proportion of patients clinically diagnosed as having familial hypercholesterolemia (FH) do not manifest causative mutation(s) in the FH genes such asLDLR,APOB, andPCSK9.
|
31327807 |
2019 |
Hypercholesterolemia, Familial
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
A pathogenic variant in LDLR, APOB, or PCSK9 can be identified in 30% to 80% of patients with clinically-diagnosed familial hypercholesterolemia (FH).
|
31345425 |
2019 |
Hypercholesterolemia, Familial
|
0.700 |
GeneticVariation
|
disease |
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 |
Hypercholesterolemia, Familial
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Among the 3381 index cases included with these characteristics in the French registry for familial hypercholesterolemia, 2054 underwent molecular diagnosis and 1150 (56%) were found to have mutations (93.5% in LDL Receptor (LDLR), 4.7% in apolipoprotein B and 1.8% in Proprotein convertase subtilisin/kexin type 9).
|
29389714 |
2018 |
Hypercholesterolemia, Familial
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Both homozygous and heterozygous FH are related to mutations of LDLR (mainly), APOB, PCSK9, while other rare forms exist.
|
30306860 |
2018 |
Hypercholesterolemia, Familial
|
0.700 |
Biomarker
|
disease |
BEFREE |
Mutations in the low-density lipoprotein (LDLR), apolipoprotein B (APOB), proprotein convertase subtilisin/kexin 9 (PCSK9), and LDLRAP1 genes have been associated with FH.
|
30415195 |
2018 |
Hypercholesterolemia, Familial
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The main aim of this work was to identify and characterize novel alterations in APOB to assess the genetic cause of hypercholesterolemia in patients with a clinical diagnosis of FH.
|
30270084 |
2018 |
Hypercholesterolemia, Familial
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Definite FH includes: (1) elevated LDL-C (≥ 8.50 mmol/L); or (2) LDL-C ≥ 5.0 mmol/L (for age 40 years or older; ≥ 4.0 mmol/L if age younger than 18 years; and ≥ 4.5 mmol/L if age is between 18 and 39 years) when associated with at least 1 of: (1) tendon xanthomas; or (2) causal DNA mutation in the LDLR, APOB, or PCSK9 genes in the proband or first-degree relative.
|
30093300 |
2018 |
Hypercholesterolemia, Familial
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
This study was aimed at screening the LDLR, APOB and PCSK9 genes in Hypercholesterolemic patients to define the genetic spectrum of FH in Indian population.
|
29269200 |
2018 |
Hypercholesterolemia, Familial
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
Three recognized genes (LDLR, APOB and PCSK9) present in only 20-30% of patients with possible FH cases.
|
29665449 |
2018 |
Hypercholesterolemia, Familial
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
This highlights the likelihood of a complex, polygenic inheritance of FH in Sri Lankan patients, indicating the need for a comprehensive genetic evaluation that includes the screening for mutations in other genes that cause FH, such as APOB, PCSK9, and LDLRAP1.
|
29720182 |
2018 |
Hypercholesterolemia, Familial
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Familial hypercholesterolemia (FH) is caused by mutations in LDLR (low-density lipoprotein receptor), APOB (apolipoprotein B), PCSK9 (proprotein convertase subtilisin/kexin type 9), or APOE (apolipoprotein E) genes in approximately 80% of the cases.
|
29374275 |
2018 |
Hypercholesterolemia, Familial
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
In Switzerland, the prevalence of familial hypercholesterolemia (FH) due to pathogenic apolipoprotein B-100 gene (APOB) variants was known, but not the prevalence of FH due to pathogenic low-density lipoprotein-receptor gene (LDLR) variants.
|
30270060 |
2018 |
Hypercholesterolemia, Familial
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Autosomal dominant hypercholesterolemia, being referred to as familial hypercholesterolemia (FH), is mainly due to defective LDL receptor (LDLR) function, but is also associated with variants in genes encoding APOB (LDLR ligand) and PCSK9, the catabolic regulator of LDLR.
|
30308187 |
2018 |
Hypercholesterolemia, Familial
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Familial hypercholesterolemia (FH) is caused by mutations in the genes encoding low-density lipoprotein receptor (LDLR), apolipoprotein B, or proprotein convertase subtilisin/kexin 9 (PCSK9).
|
27206942 |
2017 |
Hypercholesterolemia, Familial
|
0.700 |
GeneticVariation
|
disease |
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 |
Hypercholesterolemia, Familial
|
0.700 |
Biomarker
|
disease |
BEFREE |
Whole blood lipid apheresis is clinically applied in patients with familial hypercholesterolemia to reduce low density lipoprotein and other apolipoprotein B 100 containing lipoproteins.
|
26671881 |
2017 |
Hypercholesterolemia, Familial
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the LDLR, APOB, and PCSK9 genes are known to cause FH.
|
29213121 |
2017 |
Hypercholesterolemia, Familial
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Our study corroborates the broad spectrum of mutations distributed along the entire LDLR gene, and we suggest that the genes APOB and PCSK9 should also be screened for mutations when considering the diagnosis of FH.
|
28873201 |
2017 |
Hypercholesterolemia, Familial
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Familial hypercholesterolemia (FH) is most frequently caused by LDLR or APOB mutations.
|
27824480 |
2017 |
Hypercholesterolemia, Familial
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Two hundred sixty nine patients with a clinical suspect of FH were screened for variants in LDLR and the patients without pathogenic variants were screened for variants in PCSK9 and APOB.
|
29127338 |
2017 |