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Blood, 15 September 2002, Vol. 100, No. 6, pp. 2081-2086
HEMOSTASIS, THROMBOSIS, AND VASCULAR BIOLOGY
A common polymorphism in the annexin V Kozak sequence ( 1C>T)
increases translation efficiency and plasma levels of annexin V, and
decreases the risk of myocardial infarction in young
patients
Rocio González-Conejero,
Javier Corral,
Vanessa Roldán,
Constantino Martínez,
Francisco Marín,
José Rivera,
Juan A. Iniesta,
María L. Lozano,
Pascual Marco, and
Vicente Vicente
From Hematology and Neurology Services, Hospital
General Universitario, Murcia, Spain; Hematology Service of Hospital de
San Vicente, and the Cardiology and Hematology Services of Hospital
General Universitario, Alicante, Spain.
Annexin V has phospholipid-binding capacity and plays a potent
antithrombotic role. Recently, a C to T transition has been described
in the Kozak region of this gene, affecting the nucleotide preceding
the initiation ATG codon. We have developed a simple method to detect
this genetic change, showing by analysis of 580 Mediterranean white
subjects that the  1C to T transition (1C>T) is a common
polymorphism (allele frequency, 0.121). This polymorphism is in linkage
disequilibrium with a new C>G polymorphism located 27 bp downstream in
intron 2. We show that 1C/C carriers presented significantly
lower plasma levels of annexin V than 1C/T subjects (0.45 ± 0.20
ng/mL versus 0.73 ± 0.28 ng/mL, respectively;
P = .02). In vitro transcription/translation
experiments support that the 1T allele increases translation
efficiency. The clinical relevance of the 1C>T change was
investigated in consecutive patients with nontraumatic
spontaneous intracranial hemorrhage (n = 225), deep venous thrombosis
(n = 151), and coronary heart disease (n = 101). Finally, we also
studied 166 survivors of an acute myocardial infarction occurring at
age of 45 or less. This polymorphism seems to have a minor effect in
bleeding disorders, but to play a protective role against early
myocardial infarction, reducing by 2-fold the risk of
developing the disease (P = .006; odds
ratio, 0.51; 95% confidence interval, 0.30-0.85).
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