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Technical Briefs |
1 Institute of Medical and Chemical Laboratory Diagnostics,2 University Clinic of Neurology, and3 Department of Internal Medicine, Division of Angiology, Medical University of Vienna, Vienna, Austria;4 Hospital Barmherzige Brueder, Vienna, Austria;
aaddress correspondence to this author at: Institute of Medical and Chemical Laboratory Diagnostics, Waehringer Guertel 18-20, 1090 Vienna, Austria; fax 43-1-40400-2097, e-mail christine.mannhalter{at}meduniwien.ac.at
Abstract
Background: Coagulation factor VII (FVII) plays an important role in the activation of blood coagulation and clot formation. Recent studies have provided evidence for an association between common polymorphic markers in the FVII gene and plasma FVII concentrations. The 353R>Q sequence variation, and 3 common sequence variations in the promoter of the FVII genethe 10-bp insertion/deletion at position 323 and the 401G>T and 402G>A sequence variationsare well-known determinants of circulating FVII concentrations.
Methods: To clarify the role of these sequence variations in the pathogenesis of ischemic stroke, we performed a casecontrol study with 242 patients with ischemic stroke before the age of 60 years and 239 healthy controls.
Results: The 323 insertion/deletion and the 353R>Q and 401G>T sequence variations were in strong linkage disequilibrium, and the resulting haplotypes occurred with equal frequencies in patients and controls. The variant form of FVII (402G>A) occurred only in combination with the common (wild-type) sequences at all other loci. This haplotype was more frequent in patients than in healthy controls (28% vs 22%). The difference in the prevalence of carriers of this haplotype among patients and controls was statistically significant (P = 0.03; odds ratio = 1.6; 95% confidence interval, 1.12.6).
Conclusion: According to our results, the FVII 402A allele seems to increase the risk of early ischemic cerebrovascular events, whereas the 353R>Q, G401T, and 323ins/del sequence variations, which are in close linkage disequilibrium, apparently do not influence the risk of stroke.
The following articles in journals at HighWire Press have cited this article:
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A. A. Jackson, K. R. Cronin, R. Zachariah, and J. A. Carew CCAAT/Enhancer-binding Protein-beta Participates in Insulin-responsive Expression of the Factor VII Gene J. Biol. Chem., October 26, 2007; 282(43): 31156 - 31165. [Abstract] [Full Text] [PDF] |
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