RAPID COMMUNICATION
New Variants in the Apolipoprotein AV Gene
in Individuals with Extreme Triglyceride Levels
J.A. HUBÁČEK1,2, V. ADÁMKOVÁ1, R. ČEŠKA3, R. POLEDNE1, 2,
A. HOŘÍNEK3, M. VRÁBLÍK3
1Institute for Clinical and Experimental Medicine, 2Center for
Experimental Cardiovascular Research and 3Third Internal Department, First
Medical Faculty, Charles University, Prague, Czech Republic
Received October 30, 2003
Accepted January 8, 2004
Summary
Animal studies (on transgenic and knock-out mice) and human association
analysis assessed the importance of APOAV gene for plasma triglyceride
determination. New APOAV missense variants (Val153 → Met and Cys185 → Gly)
have been detected recently. We have analyzed these variants in 83
unrelated patients with extreme lipid parameters (triglycerides of
20.4±12.8 mmol/l and total cholesterol of 10.4±3.7 mmol/l) and in a
control population group consisting of 2,559 unrelated Caucasians. In
patients, the frequency of the Met153 carriers was slightly but not
significantly higher (9.64 % vs. 6.49 %) compared to the population
sample. This suggested that Val153 → Met polymorphism in the APOAV gene
does not represent an important risk factor for developing the extreme
levels of plasma triglycerides. We did not detect carriers of the Gly185
allele among patients or 420 healthy individuals. We suppose that this
variant is probably not present in Caucasian populations.
Key words
APOAV • Triglyceride • Polymorphism
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