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F. Bernardi and G. Mariani et al.
Large haplotype studies confirmed that the F7 gene strongly influences FVII levels, but associations with coro- nary artery disease and FVII level were inconsistent.105 Variable genetic, environmental and atherogenic risk fac- tors in different populations may explain this discrepancy (Table 2). The frequencies of F7 genotypes predicting lower FVII levels are higher in Caucasians and much lower in Chinese and Malays populations. On the other hand, the distribution of these F7 genotypes covaries across pop- ulations in Europe with the rate of myocardial infarction mortality, being higher in countries at low risk.106
The most recent meta-analysis of large studies14 appears to be consistent with positive and potentially clinically important causal effects of FVIIc levels, both on coronary artery disease and venous thromboembolism. However, several open issues remain (Table 2) and the usefulness of FVIIc and FVIIa evaluation in patients with cardiovascular risks is still unclear.
Conclusive remarks
In summary, in the 70 years since FVII investigation started, research has been particularly intense (Figure 1), and provided excellent examples at the basic science and
translational levels. The multidisciplinary approaches have spanned structural biology, biochemistry, recombi- nant protein biotechnology, molecular and population genetics, pharmacology, clinics and epidemiology, and encompassed various areas of hematology, hemostasis and thrombosis.
The large number of studies on FVII have not only served to substantially improve our knowledge on FVII biology and related phenotypes and to improve the quali- ty of life of the individuals with FVII deficiency, but also to train three generations of scientists in different fields.
Disclosures
Pfizer Research Grant
Contributions
FB and GM wrote the Manuscript
Acknowledgments
The authors express their gratitude to Prof. Peter Lydyard (emeritus at UCL London, UK and associate at Georgia University, Tbilisi Georgia) for his very helpful text revision and Dr Barbara Lunghi for her help in the selection of references.
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