Background: The importance of an apolipoprotein AV (apoAV) gene for plasma triglyceride (TG) level determination has been shown on transgenic and knockout mice. The influence of apoAV polymorphisms (T-1131/C and Ser19/Trp) on plasma TG levels was evaluated in a representative sample of 1191 men and 1368 women, in 435 patients with myocardial infarction (MI) and in 83 individuals with extreme TG levels (20.4+/-12.8 mmol/L).
Methods: ApoAV variants were analyzed using polymerase chain reaction and restriction analysis.
Results: T-1131/C variation in the apoAV gene affects plasma TG levels, showing a higher level in C-1131 carriers than in T/T-1131 homozygotes. This association has been observed both in men (P<0.05) and in women (P<0.01). TG levels were also influenced by the Ser19/Trp apoAV genotypes. In both males and females, the Trp19 carriers have higher plasma TGs (P<0.01) than do Ser19 homozygotes. In hypertriglyceridemic patients, the frequency of carriers of the T/C-1131 and C/C-1131 genotypes (32.5% versus 15.4%, P<0.0001) and Ser/Trp19 and Trp/Trp19 genotypes (30.1% versus 14.1%, P<0.0001) was much higher than in the population sample. In a group of MI patients (n=435), the frequency of the disadvantageous homozygous genotypes, with their effect of increasing the TG concentration (C/C-1131 and/or Trp/Trp19), was significantly higher than in the population sample (7.4% versus 2.0%, P<0.00001).
Conclusion: Variation(s) in the apoAV gene play an important role in the genetic determination of plasma TG levels and influence the risk of MI.
Keywords: Apolipoprotein AV; Genetics; Myocardial infarction; Polymorphism; Triglycerides.