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Familial defective apolipoprotein B-100: A review.
Journal article

Familial defective apolipoprotein B-100: A review.

  • Andersen LH Department of Clinical Research, Lancaster General Health/Penn Medicine, Lancaster, PA, USA. Electronic address: landersen4@lghealth.org.
  • Miserez AR Department of Biomedicine, University of Basel, Basel, Switzerland; Department of Molecular Medicine, diagene Laboratories Inc, Research Institute, Reinach, Switzerland.
  • Ahmad Z Division of Nutrition and Metabolic Disease, Department of Internal Medicine, University of Texas Southwestern Medical Center, Dallas, TX, USA.
  • Andersen RL Preventive Cardiology and Apheresis Clinic, Division of Cardiology, Lancaster General Health/Penn Medicine, Lancaster, PA, USA.
  • 2016-12-07
Published in:
  • Journal of clinical lipidology. - 2016
APOB
FDB
FH
Familial defective apolipoprotein B-100
Familial hypercholesterolemia
Hyperlipidemia
Lipid metabolism
Population genetics
R3500Q
R3500 W
Apolipoprotein B-100
Cholesterol, LDL
Humans
Hyperlipoproteinemia Type II
Polymorphism, Single Nucleotide
Receptors, LDL
English Familial defective apolipoprotein B-100 (FDB) is an autosomal dominant genetic disorder of lipid metabolism associated with hyperlipidemia and elevated risk for atherosclerosis. FDB is caused by mutations in APOB reducing the binding affinity between apolipoprotein B-100 and the low-density lipoprotein receptor. 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. However, the elevation of plasma low-density lipoprotein cholesterol observed in FDB is frequently milder than that of FH due to mutations in LDLR, and FDB is subsequently underdiagnosed according to standard FH diagnostic criteria.
Language
  • English
Open access status
closed
Identifiers
Persistent URL
https://sonar.ch/global/documents/102085
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