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Blood, Vol. 93 No. 10 (May 15), 1999:
pp. 3432-3441
Two Common Functional Polymorphisms in the Promoter Region of the
Coagulation Factor VII Gene Determining Plasma Factor VII Activity
and Mass Concentration
Ferdinand M. van 't Hooft,
Angela Silveira,
Per Tornvall,
Anastasia Iliadou,
Ewa Ehrenborg,
Per Eriksson, and
Anders Hamsten
From the Atherosclerosis Research Unit, King Gustaf V Research
Institute and the Cardiology Unit, Department of Medicine, Karolinska
Hospital, and the Division of Genetic Epidemiology, Institute of
Environmental Medicine, Karolinska Institute, Stockholm, Sweden.
Recent studies have provided evidence for associations between
common polymorphic markers in the coagulation factor VII (FVII) gene
and plasma FVII levels. Here we describe two common, nonrelated, functional polymorphisms in the promoter region of the FVII gene, a G
to T substitution at position  401 and a novel G to A substitution at
position 402. Both polymorphisms strongly influence the binding properties of nuclear protein(s). The rare 401T allele is associated with a reduced basal rate of transcription of the FVII gene in human
hepatoblastoma cells and with reduced plasma concentrations of total
FVII (VIIag) and fully activated FVII molecules (VIIa). In contrast,
the rare 402A allele confers increased transcriptional activity and
is associated with increased plasma FVII levels. Together, the two
polymorphisms explained 18% and 28% of the variation in VIIag and
VIIa, respectively, in a group of 183 healthy, middle-aged men. It is
concluded that these polymorphisms are important for the regulation of
the plasma levels of FVII and that they are likely to be useful genetic
markers to resolve the issue of whether a causal relationship exists
between FVII levels and risk of coronary heart disease.
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