[Relationship between ATP-binding cassette transporter 1 R219K genetic variation and blood lipids]

Zhonghua Yi Xue Za Zhi. 2004 Sep 2;84(17):1421-5.
[Article in Chinese]

Abstract

Objective: To investigate whether ATP-binding cassette transporter 1 (ABCA1) R219K genetic variation is correlated with blood lipids.

Method: Specimens of peripheral blood were collected from 692 patients with cerebral apoplexy, aged 62 +/- aged 12, and 352 sex- and age-matched persons without cardio-cerebro-vascular disease. Polymerase chain reaction-restricted fragments length polymorphism (PCR-RFLP) was used to determine the ABCA1 genotype: RR type (177 bp), RK type (177 bp, 107 bp, and 70 bp); and KK type (107 bp and 70 bp). The RR and KK type products were sequenced.

Results: The level of HDL-C showed an upward trend in the sequence of RR, RK, and KK genotypes with a significant difference between RR genotype (1.3 mmol/L +/- 0.4 mmol/L) and KK genotype (1.4 mmol/L +/- 0.4 mmol/L), especially in the males. The levels of TG tended downward in the sequence of RR, RK, and KK genotypes, however, without a significant difference between any 2 genotypes. Linear regression analysis showed that the HDL-C level was positively correlated with age in the noncarriers of ABCA1R219K genetic variation (RR genotype), and the TC level was negatively correlated with age in the carriers (RK + KK genotype). In the cohort aged </= 70 the HDL-C level was higher in carriers than in noncarriers.

Conclusion: ABCA1R219K genetic variation results in a beneficial profile of blood lipids, more evident in males. RK + KK genotype is more pronounced in the individuals aged </= 70.

MeSH terms

  • ATP Binding Cassette Transporter 1
  • ATP-Binding Cassette Transporters / genetics*
  • Aged
  • Base Sequence
  • Cerebrovascular Disorders / blood*
  • Cerebrovascular Disorders / genetics
  • Cholesterol, HDL / blood*
  • Female
  • Gene Frequency
  • Genetic Variation*
  • Genotype
  • Humans
  • Hyperlipidemias / blood
  • Hyperlipidemias / genetics*
  • Male
  • Middle Aged
  • Molecular Sequence Data
  • Polymorphism, Restriction Fragment Length
  • Polymorphism, Single Nucleotide
  • Triglycerides / blood

Substances

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