Apolipoprotein B gene polymorphisms in people in the east Mediterranean area of Turkey

East Mediterr Health J. 2004 Jan-Mar;10(1-2):125-30.

Abstract

Point mutations in the receptor binding domain of low density lipoprotein may increase cholesterol levels in blood. Three mutations of Apo B-100 protein result in defective binding (Arg 3500 ----> [corrected] Gln, Arg 3500 ----> [corrected] Trp and Arg 3531 ----> [corrected] Cys). We estimated the frequency of Apo B point mutations (codon 3500) C9774T (Arg 3500 ----> [corrected] Trp) and G9775A (Arg 3500 ----> [corrected] Gln) in 179 atherosclerotic, 145 hyperlipidaemic individuals and 272 healthy individuals in the east Mediterranean region of Turkey. Lipid and lipoprotein levels were measured with routine biochemical analyser and Apo B mutation was detected using real-time PCR. Neither mutation was found. In this region, Apo B-100 protein mutations are rare and causes of hyperlipidaemia and atherosclerosis may therefore be unrelated to them.

MeSH terms

  • Adult
  • Apolipoprotein B-100
  • Apolipoproteins A / blood
  • Apolipoproteins B / blood
  • Apolipoproteins B / genetics*
  • Arteriosclerosis / blood
  • Arteriosclerosis / epidemiology
  • Arteriosclerosis / genetics*
  • Case-Control Studies
  • Causality
  • Cholesterol, HDL / blood
  • Cholesterol, LDL / blood
  • Cholesterol, VLDL / blood
  • Female
  • Gene Frequency / genetics
  • Humans
  • Hypercholesterolemia / blood
  • Hypercholesterolemia / epidemiology
  • Hypercholesterolemia / genetics*
  • Male
  • Mediterranean Region / epidemiology
  • Middle Aged
  • Molecular Epidemiology
  • Point Mutation / genetics*
  • Polymerase Chain Reaction / methods
  • Polymorphism, Genetic / genetics*
  • Population Surveillance
  • Rare Diseases
  • Triglycerides / blood
  • Turkey / epidemiology

Substances

  • Apolipoprotein B-100
  • Apolipoproteins A
  • Apolipoproteins B
  • Cholesterol, HDL
  • Cholesterol, LDL
  • Cholesterol, VLDL
  • Triglycerides