Cholesterol x APOB

Last update 08 May 2025

Basic Info

Related Targets

CholesterolAPOB

Drugs associated with Cholesterol x APOB

CAP-22

Target

APOB x Cholesterol

Mechanism

APOB inhibitors [+3]

Active Org.

Glycadia, Inc.

Originator Org.

Glycadia, Inc.

Active Indication

Diabetes Complications

Inactive Indication-

Drug Highest PhaseClinical

First Approval Ctry. / Loc.-

First Approval Date20 Jan 1800

100 Clinical Results associated with Cholesterol x APOB

100 Translational Medicine associated with Cholesterol x APOB

0 Patents (Medical) associated with Cholesterol x APOB

Literatures (Medical) associated with Cholesterol x APOB

01 May 2018·Revista Española de Cardiología (English Edition)

Single Nucleotide Variants Associated With Polygenic Hypercholesterolemia in Families Diagnosed Clinically With Familial Hypercholesterolemia

Article

Author: Cenarro, Ana ; Pérez-Ruiz, María Rosario ; Mateo-Gallego, Rocío ; Tejedor, María Teresa ; Baila-Rueda, Lucía ; Pérez-Calahorra, Sofía ; Lamiquiz-Moneo, Itziar ; de Castro-Orós, Isabel ; Jarauta, Estíbaliz ; Civeira, Fernando ; Bea, Ana M ; Marco-Benedí, Victoria

INTRODUCTION AND OBJECTIVESApproximately 20% to 40% of clinically defined familial hypercholesterolemia cases do not show a causative mutation in candidate genes, and some of them may have a polygenic origin. A cholesterol gene risk score for the diagnosis of polygenic hypercholesterolemia has been demonstrated to be valuable to differentiate polygenic and monogenic hypercholesterolemia. The aim of this study was to determine the contribution to low-density lipoprotein cholesterol (LDL-C) of the single nucleotide variants associated with polygenic hypercholesterolemia in probands with genetic hypercholesterolemia without mutations in candidate genes (nonfamilial hypercholesterolemia genetic hypercholesterolemia) and the genetic score in cascade screening in their family members.METHODSWe recruited 49 nonfamilial hypercholesterolemia genetic hypercholesterolemia families (294 participants) and calculated cholesterol gene scores, derived from single nucleotide variants in SORT1, APOB, ABCG8, APOE and LDLR and lipoprotein(a) plasma concentration.RESULTSRisk alleles in SORT1, ABCG8, APOE, and LDLR showed a statistically significantly higher frequency in blood relatives than in the 1000 Genomes Project. However, there were no differences between affected and nonaffected members. The contribution of the cholesterol gene score to LDL-C was significantly higher in affected than in nonaffected participants (P = .048). The percentage of the LDL-C variation explained by the score was 3.1%, and this percentage increased to 6.9% in those families with the highest genetic score in the proband.CONCLUSIONSNonfamilial hypercholesterolemia genetic hypercholesterolemia families concentrate risk alleles for high LDL-C. Their contribution varies greatly among families, indicating the complexity and heterogeneity of these forms of hypercholesterolemias. The gene score explains a small percentage of LDL-C, which limits its use in diagnosis.

01 Mar 2003·European Journal of Pediatrics

Unusual presentation of three siblings with familial heterozygous hypobetalipoproteinaemia

Article

Author: Kairamkonda, V ; Dalzell, M

We describe three siblings with the unusual presentation of manifest steatorrhoea and vitamin E deficiency mimicking homozygous familial hypobetalipoproteinaemia (FHBL) but whose lipid profile (cholesterol and ApoB) was consistent with heterozygous FHBL. Upper gastrointestinal endoscopy and small intestinal biopsy were normal. We discuss the diagnosis with reference to the relevant literature.CONCLUSIONalthough rare, familial hypobetalipoproteinaemia should be considered among the causes of manifest steatorrhoea in childhood even without evidence of failure to thrive. Dietary restriction of fat and high dose vitamin E supplementation improves quality of life by reducing stool frequency and may prevent or delay neurological complications.

01 Nov 2000·Annals of EpidemiologyQ3 · MEDICINE

Effects of the ApoE Polymorphism on Plasma Lipoproteins in Mexican Americans

Q3 · MEDICINE

Article

Author: Braxton D. Mitchell ; Wen Chi Hsueh ; David L. Rainwater ; James E. Hixson

PURPOSETo evaluate the impact of apolipoprotein E (apoE) genotypes on lipoprotein measurements relative to that of other known cardiovascular risk factors in participants of a large population-based family study.METHODSWe measured concentrations of apoE, the major constituents of HDL (cholesterol, apoAI), LDL-C (cholesterol and apoB), and fraction of apoE in lipoprotein size classes in 859 participants of the San Antonio Family Heart Study, and then tested the association between the three common apoE genotypes (epsilon2epsilon3, epsilon3epsilon3, and epsilon3epsilon4) and lipoprotein traits using the measured genotype approach to account for residual familial correlations.RESULTSAllele frequencies in this population for epsilon2, epsilon3, and epsilon4 were 3.5%, 89.6%, and 6.9%, respectively. As expected, adjusted apoE concentrations were highest in those with epsilon2epsilon3, intermediate in those with epsilon3epsilon3, and lowest in those with epsilon3epsilon4. The concentrations of total cholesterol, LDL-C and apoB were lowest in those with epsilon2epsilon3, intermediate in those with epsilon3epsilon3, and highest in those with epsilon3epsilon4. There was no significant effect of apoE genotypes on triglycerides, HDL-C, or apoAI levels. Compared to subjects with epsilon3epsilon4, subjects with epsilon2epsilon3 had relatively less apoE in LDL and HDL(1), and relatively more in HDL(2) and HDL(3) size fractions. The effect of apoE genotypes was significantly greater on apoB in women than in men. ApoE genotypes accounted for 4.5%, 12.3%, and 4.7% of the total genetic variation in apoB, apoE, and LDL-C, respectively.CONCLUSIONApoE genotypes account for a modest, albeit significant, proportion of phenotypic variation in concentrations of LDL-C, apoB, and apoE, and distributions of apoE among lipoproteins in this population; these genotypes have a greater effect on apoB levels in women than in men.

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