[Relationship between the R219K polymorphism of ATP-binding cassette transporter 1 gene and coronary heart disease]

Yi Chuan. 2005 Jul;27(4):549-22.
[Article in Chinese]

Abstract

To study the distribution of R219K polymorphism in ATP-Binding Cassette Transporter 1 (ABCA1) gene in Chinese Han population and the association of this polymorphism with coronary heart disease (CHD) . Genotypes were determined by PCR-RFLP approach in 417 unrelated healthy controls and 396 CHD patients. The frequencies of K allele and KK genotype for controls (0.465, 0.228) were significantly higher than those (0.381, 0.162) for patients (P<0.05). When the patients were divided into two subgroups by onset-age, the frequencies of K allele and KK genotype for early-onset patients (0.34, 0.111) were lower than those (0.419, 0.205) for late-onset patients and those for controls (P<0.05) , while there were no such differences between late-onset patients and controls. Patients with RR genotype had a higher plasma concentration of triglycerides (TG) when compared with that of KK genotype (P<0.05) . No significant differences of plasma high-density lipoprotein cholesterol (HDL-C) level were observed among patients with different genotypes. These data suggest that the R219K polymorphism in ABCA1 gene is correlated with CHD, and the ABCA1 gene KK genotype may has a function against atherosclerosis without detectable change of plasma HDL-C level in Chinese Han population.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • ATP Binding Cassette Transporter 1
  • ATP-Binding Cassette Transporters / genetics*
  • Aged
  • Alleles
  • Atherosclerosis / blood
  • Atherosclerosis / genetics
  • Cholesterol, HDL / blood
  • Coronary Disease / blood
  • Coronary Disease / genetics*
  • Female
  • Gene Frequency
  • Genetic Predisposition to Disease
  • Genotype
  • Humans
  • Male
  • Middle Aged
  • Polymerase Chain Reaction
  • Polymorphism, Genetic*
  • Polymorphism, Restriction Fragment Length
  • Triglycerides / blood

Substances

  • ABCA1 protein, human
  • ATP Binding Cassette Transporter 1
  • ATP-Binding Cassette Transporters
  • Cholesterol, HDL
  • Triglycerides