title: Apolipoprotein E gene polymorphisms in Lebanese with hypercholesterolemia.
abstract: Apolipoprotein E (ApoE) has an important role in the metabolism of lipids through its major isoforms (ε2, ε3, ε4). In particular, ApoE ε4, has been considered as a major genetic risk factor for cardiovascular diseases (CVD). The aim of our study is to investigate the frequency of ApoE gene polymorphisms (rs 429358C>T, rs 7412C>T) and their relationship to lipid parameters in a group of Lebanese hypercholesterolemic subjects (22 males and 24 females, aged 25-80 years). Lipid profile, apolipoproteins A-I and B were determined using fasting serum samples; and molecular analysis of ApoE polymorphisms using blood in EDTA tubes. The distribution of the four ApoE genotypes detected in this study was: ε3/ε3 (73.9%), ε3/ε4 (17.4%), ε2/ε3 (6.5%), and ε2/ε4 (2.2%) resulting in allelic frequencies for ε2, ε3 and ε4 of 4.3%, 85.9% and 9.8%, respectively. No association was determined among any of the lipid parameters, gender and ApoE genotypes. Lipid parameters were not statistically different among various ApoE genotypes (p>0.05). ApoE ε2 frequency was found to be lower than that previously reported for healthy Lebanese (7.2%). CVD is one of the major leading causes of mortality in Lebanon with a reported prevalence of 12.2% in males and 7.7% in females, which incidentally agrees with our finding regarding ε4 allelic frequency of 13.6% in males and 6.3% in females. Consequently, larger prospective studies are recommended to highlight the correlation of ApoE polymorphisms to other biochemical and environmental factors involved in CVD.
authors.affiliation: Department of Pathology and Laboratory Medicine, American University of Beirut Medical Center, Beirut, Lebanon.
authors.forename: Rami A
authors.initials: RA
authors.lastname: Mahfouz
authors.forename: Khalil M
authors.initials: KM
authors.lastname: Charafeddine
authors.forename: Rita F
authors.initials: RF
authors.lastname: Tanios
authors.forename: Nathalie M
authors.initials: NM
authors.lastname: Karaky
authors.forename: Rabab N
authors.initials: RN
authors.lastname: Abdul Khalik
authors.forename: Rose T
authors.initials: RT
authors.lastname: Daher
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D001057:Apolipoproteins E / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005838:Genotype; D006801:Humans; D006937:Hypercholesterolemia / Q000235:genetics*; D007861:Lebanon; D008055:Lipids / Q000235:genetics; D008297:Male; D008875:Middle Aged; D011110:Polymorphism, Genetic
chemical_list: D001057:Apolipoproteins E; D008055:Lipids