title: Increased risk of premature coronary artery disease in Egyptians with ABCA1 (R219K), CETP (TaqIB), and LCAT (4886C/T) genes polymorphism.
abstract: BACKGROUND
  Epidemiological studies have shown a strong inverse relationship between high-density lipoprotein (HDL) cholesterol (HDLc) levels and coronary artery disease (CAD), and a low concentration of plasma HDLc is considered an independent risk factor for premature atherosclerosis. Mutations in ATP-binding cassette A1 transporter (ABCA1), cholesteryl ester transfer protein (CETP), and lecithin: cholesterol acyltransferase (LCAT) reduce HDLc in humans.
  
  
  OBJECTIVE
  To date, no study had tested the association between these polymorphisms and premature CAD (PCAD) in the Egyptian population. Here we searched for ABCA1 (rs2230806), CETP (rs708272), and LCAT (rs5923) mutations in the Egyptian population and investigated the possible association between these gene polymorphisms and PCAD. We aimed to investigate the association between ABCA1, CETP, and LCAT gene polymorphisms and PCAD in Egyptians.
  
  
  METHODS
  A total of 235 Egyptians-116 with documented PCAD (PCAD group) and 119 controls-were enrolled in the study.
  
  
  RESULTS
  Mutation carriers with low HDLc had an elevated risk of PCAD (odds ratio [OR] = 11.38 for ABCA1 mutation carriers, P = .000; OR = 5.41 for CETP mutation carriers, P = .000; OR = 5.92 for LCAT mutation carriers, P = .000). Moreover, mutations in ABCA1, CETP, and LCAT were significantly associated with hyperlipidemia in this study.
  
  
  CONCLUSIONS
  These observations show that the R allele of ABCA1, the B1 allele of CETP, and the T allele LCAT genes are associated with PCAD in Egyptians. They have more considerable effect on patients with low HDLc.
authors.affiliation: Department of Cardiology, Faculty of Medicine, Zagazig University, Zagazig, Egypt.
authors.forename: Tarek A
authors.initials: TA
authors.lastname: Abd El-Aziz
authors.affiliation: Department of Biochemistry, Faculty of Pharmacy, Zagazig University, Zagazig, Egypt. Electronic address: drhussieny2009@yahoo.com.
authors.forename: Rasha H
authors.initials: RH
authors.lastname: Mohamed
authors.affiliation: Department of Clinical Pathology, Faculty of Medicine, Zagazig University, Zagazig, Egypt.
authors.forename: Hoda A
authors.initials: HA
authors.lastname: Hagrass
mesh_terms: D064286:ATP Binding Cassette Transporter 1 / Q000235:genetics*; D000328:Adult; D053480:Cholesterol Ester Transfer Proteins / Q000235:genetics*; D003324:Coronary Artery Disease / Q000235:genetics*; D004252:DNA Mutational Analysis; D004534:Egypt; D005260:Female; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006801:Humans; D006949:Hyperlipidemias / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics; D007862:Phosphatidylcholine-Sterol O-Acyltransferase / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D012306:Risk
chemical_list: D064286:ATP Binding Cassette Transporter 1; C506642:CETP protein, human; D053480:Cholesterol Ester Transfer Proteins; D007862:Phosphatidylcholine-Sterol O-Acyltransferase
keywords: ABCA1; CETP; HDLc; LCAT; PCAD