Factor VII polymorphisms associated with plasma factor VII coagulant activity levels in healthy Tunisians

Abstract

Factor VII gene polymorphisms may contribute to elevations in factor VII coagulant [‏FVIIc]‏ levels that have been associated with cardiovascular risk. We therefore studied the association of two polymorphisms--R353Q polymorphism at codon 353 involving the catalytic region and the 10 base pair [‏bp]‏ insertion polymorphism involving the promoter region--with FVllc levels in 176 healthy Tunisians. The variant Q allele had a frequency of 0.213 [‏SD 0.021]‏ whereas the frequency of the 10 bp insert allele was 0.250 [‏SD 0.023]‏. Subjects with R/R genotype had significantly higher FVllc levels than Q353 heterozygote and homozygote subjects [‏96.36 versus 59.52]‏. FVIIc levels with the 10 bp insertion polymorphism were not significantly different. The Q353 allele of the factor VII gene polymorphism is associated with decreased factor VII and could be protective against cardiovascular disease