Abstract
We reported previously that the polymorphism frequency at R353Q of factor VII Japanese was not different from that of Caucasian and Afrocarribean populations, but was different from that of Gurjarati Indians (Scand J Clin Lab Invest 55: 211, 1995). There is another polymorphism that results in a 10 base pair insert in the promoter region at position -323 from the start of translation in the factor VII gene (0/10bp). Both polymorphisms were associated with lower levels of factor VII: c. However, it was reported that the polymorphism in the promoter region was not associated with lower levels of factor VII: c in Afrocarribeans (Thromb Haemost 77: 212, 1997). To examine the influence of genetic variability on race difference in factor VII, we examined the frequency of two polymorphisms of factor VII gene and the relationship between the polymorphisms and factor VII in 207 healthy Japanese individuals. The frequencies for the Q and 10bp allele were 0. 07 and 0. 08, respectively. The haplotype frequencies for R-0bp, R-10bp, Q-0bp and Q-10bp were 0. 909, 0. 021, 0. 011 and 0. 059, respectively. Factor VII: c, VII: ag and the binding ability to tissue factor (TF-VII binding) in individuals homozygous for 10bp were all approximately 30% lower than those without 10bp allele. Heterozygous 10bp individuals were approximately 12% higher than homozygous individuals. The frequency of homozygocity for both Q and 10bp was 1.45%, and their values related to factor VII were approximately 40% lower than those without 0bp and R allele. There was no difference in the levels of factor VII between smokers and non-smokers in spite of the presence and absence of polymorphisms in the factor VII gene. There was no difference in the correlation between factor VII and triglyceride in individuals with and without 10bp allele and/or Q allele.
