title: ApoB-100 R3500Q mutation in the Lebanese population: prevalence and historical review of the literature.
abstract: An interesting mutation affecting the Apo-B gene, R3500Q, is known to display variable geographical distribution in the world and is mostly implicated in the pathogenesis of Familial Hypercholesterolemia (FH). The aim of this study is to determine the prevalence of this mutation in the Lebanese population and compare it to the available international literature. DNA from 160 unrelated healthy donors from our HLA-bank was used and the ApoB genotype was determined using the CardioVascular Disease (CVD) StripAssay (this assay is based on a Polymerase Chain Reaction-Reverse Hybridization technique). The R3500Q mutation was not observed in the general Lebanese population. Since the mutation frequency is elevated in Central Europe and tends to decrease as one moves east and south, it disappears completely in the Mediterranean regions such as Spain, Turkey and Israel; therefore, it is rather expected to be absent in Lebanon as well. Our report adds a valuable piece of information regarding this mutation in an Arab country and paves the way for future research involving patients diagnosed with FH in order to assess the role of the R3500Q mutation in the development of this clinical entity.
authors.affiliation: Department of Pathology and Laboratory Medicine, American University of Beirut Medical Center, Riad El Solh , P.O. Box 11-0236, 11072020 Beirut, Lebanon.
authors.forename: Amira S
authors.initials: AS
authors.lastname: Sabbagh
authors.forename: Rose T
authors.initials: RT
authors.lastname: Daher
authors.forename: Zaher K
authors.initials: ZK
authors.lastname: Otrock
authors.forename: Rabab N Abdel
authors.initials: RN
authors.lastname: Khalek
authors.forename: Ghazi S
authors.initials: GS
authors.lastname: Zaatari
authors.forename: Rami A R
authors.initials: RA
authors.lastname: Mahfouz
mesh_terms: D053299:Apolipoprotein B-100 / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D007861:Lebanon; D008297:Male; D020125:Mutation, Missense
chemical_list: D053299:Apolipoprotein B-100