Apolipoprotein E gene polymorphisms in Lebanese with hypercholesterolemia

作者：Mahfouz Rami A; Charafeddine Khalil M; Tanios Rita F; Karaky Nathalie M; Khalik Rabab N Abdul; Daher Rose T^*

来源：Gene, 2013, 522(1): 84-88.

DOI：10.1016/j.gene.2013.03.019

• Apolipoprotein E
• Polymorphism
• Lebanon
• Hypercholesterolemia

Apolipoprotein E (ApoE) has an important role in the metabolism of lipids through its major isoforms (epsilon 2,epsilon 3, epsilon 4). In particular, ApoE 84, 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%26gt;T, rs 7412C %26gt; 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: epsilon 3/epsilon 3 (73.9%), epsilon 3/epsilon 4 (17.4%), epsilon 2/epsilon 3 (6.5%), and epsilon 2/epsilon 4 (2.2%) resulting in allelic frequencies for epsilon 2, epsilon 3 and 84 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 %26gt; 0.05). ApoE 82 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 84 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 biochemicatand environmental factors involved in CVD.

• 出版日期2013-6-10