Apolipoprotein AV gene polymorphisms (T-1131/C and Ser19/Trp) influence plasma triglyceride levels and risk of myocardial infarction.
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).


CONCLUSIONS
Variation(s) in the apoAV gene play an important role in the genetic determination of plasma TG levels and influence the risk of MI.
Hubacek
Jaroslav A
JA
Institute of Clinical and Experimental Medicine;
Skodova
Zdena
Z
Adamkova
Vera
V
Vrablik
Michal
M
Horinek
Ales
A
Lanska
Vera
V
Ceska
Richard
R
Poledne
Rudolf
R