Hyperlipoproteinemia Type IIa
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Autosomal dominant hypercholesterolemia (ADH) is associated with mutations in the low-density lipoprotein (LDL) receptor (LDLR), apolipoprotein B (APOB), and proprotein convertase subtilisin/kexin 9 (PCSK9) genes, and it is estimated to be greatly underdiagnosed.
|
30293936 |
2019 |
Hyperlipoproteinemia Type IIa
|
0.500 |
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 |
Hyperlipoproteinemia Type IIa
|
0.500 |
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 |
Hyperlipoproteinemia Type IIa
|
0.500 |
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 |
Hyperlipoproteinemia Type IIa
|
0.500 |
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 |
Hyperlipoproteinemia Type IIa
|
0.500 |
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 |
Hyperlipoproteinemia Type IIa
|
0.500 |
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 |
Hyperlipoproteinemia Type IIa
|
0.500 |
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 |
Hyperlipoproteinemia Type IIa
|
0.500 |
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 |
Hyperlipoproteinemia Type IIa
|
0.500 |
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 |
Hyperlipoproteinemia Type IIa
|
0.500 |
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 |
Hyperlipoproteinemia Type IIa
|
0.500 |
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 |
Hyperlipoproteinemia Type IIa
|
0.500 |
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 |
Hyperlipoproteinemia Type IIa
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
Three recognized genes (LDLR, APOB and PCSK9) present in only 20-30% of patients with possible FH cases.
|
29665449 |
2018 |
Hyperlipoproteinemia Type IIa
|
0.500 |
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 |
Hyperlipoproteinemia Type IIa
|
0.500 |
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 |
Hyperlipoproteinemia Type IIa
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
170 (57.1% female) of them were fully genotyped, 44.7% had an FH disease-causing variant (28.8% in LDLR gene, 15.9% in APOB, none in PCSK9), one patient was LIPA positive, and 40.9% of the remaining patients carried an ApoE4 isoform; genetic analysis is still ongoing for one-third of the referred patients.
|
30270075 |
2018 |
Hyperlipoproteinemia Type IIa
|
0.500 |
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 |
Hyperlipoproteinemia Type IIa
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
Autosomal dominant hypercholesterolemia (ADH), characterized by high-plasma low-density lipoprotein cholesterol (LDL-C) levels and premature cardiovascular disease (CVD) risk, is caused by mutations in LDLR, APOB, and/or PCSK9.
|
27919364 |
2017 |
Hyperlipoproteinemia Type IIa
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Familial hypercholesterolemia (FH) is an autosomal dominant disease caused by mutations in the genes for LDL receptor (LDLR), apolipoprotein B (APOB) and proprotein convertase subtilisin/kexin type9 (PCSK9).
|
28104544 |
2017 |
Hyperlipoproteinemia Type IIa
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
In this and our previous study, we show that a causal mutation in LDLR, APOB, and PCSK9 can be identified in almost all children with a definite clinical diagnosis of FH.
|
27578116 |
2017 |
Hyperlipoproteinemia Type IIa
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Familial hypobetalipoproteinemia (FHBL) represents the genetic mirror of FH in terms of LDL-C levels, very low in subjects carrying mutations of APOB, PCSK9 (FHBL1) or ANGPTL3 (FHBL2).
|
27804036 |
2017 |
Hyperlipoproteinemia Type IIa
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Familial hypercholesterolemia (FH) is most frequently caused by LDLR or APOB mutations.
|
27824480 |
2017 |
Hyperlipoproteinemia Type IIa
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We also found that mutations in APOB and PCSK9 genes were a rare cause of FH in our cohort.
|
28965614 |
2017 |
Hyperlipoproteinemia Type IIa
|
0.500 |
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 |