title: Familial defective apolipoprotein B-100: A review.
abstract: 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.
authors.affiliation: Department of Clinical Research, Lancaster General Health/Penn Medicine, Lancaster, PA, USA. Electronic address: landersen4@lghealth.org.
authors.forename: Lars H
authors.initials: LH
authors.lastname: Andersen
authors.affiliation: Department of Biomedicine, University of Basel, Basel, Switzerland; Department of Molecular Medicine, diagene Laboratories Inc, Research Institute, Reinach, Switzerland.
authors.forename: André R
authors.initials: AR
authors.lastname: Miserez
authors.affiliation: Division of Nutrition and Metabolic Disease, Department of Internal Medicine, University of Texas Southwestern Medical Center, Dallas, TX, USA.
authors.forename: Zahid
authors.initials: Z
authors.lastname: Ahmad
authors.affiliation: Preventive Cardiology and Apheresis Clinic, Division of Cardiology, Lancaster General Health/Penn Medicine, Lancaster, PA, USA.
authors.forename: Rolf L
authors.initials: RL
authors.lastname: Andersen
mesh_terms: D053299:Apolipoprotein B-100 / Q000235:genetics*; D008078:Cholesterol, LDL / Q000097:blood; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000175:diagnosis* / Q000208:ethnology / Q000235:genetics; D020641:Polymorphism, Single Nucleotide; D011973:Receptors, LDL / Q000235:genetics
chemical_list: D053299:Apolipoprotein B-100; D008078:Cholesterol, LDL; D011973:Receptors, LDL
keywords: APOB; FDB; FH; Familial defective apolipoprotein B-100; Familial hypercholesterolemia; Hyperlipidemia; Lipid metabolism; Population genetics; R3500Q; R3500 W