Original ArticlesGenotype associations of factor VII gene with plasma factor VII coagulant activity and antigen levels in healthy ChineseLiu, Y.; Heng, C. K.; Saha, N.; Hong, S.; Low, P. S.Author Information Y. Liu, C. K. Heng, S. Hong and P. S. Low are with the Department of Paediatrics, National University of Singapore, Singapore, and N. Saha is with the Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pennsylvania, USA. (Received 13 August 2001; revised 17 December 2001; accepted 18 December 2001) Sponsorship: This study was generously supported by the National University of Singapore. Address correspondence to Yanqun Liu, Department of Colorectal Surgery, Singapore General Hospital, Outram Road, Singapore 169608, Singapore. Tel: (+65) 321 3636; fax: (+65) 226 2009; e-mail: firstname.lastname@example.org Blood Coagulation & Fibrinolysis: April 2002 - Volume 13 - Issue 3 - p 217-224 Buy Abstract A raised plasma factor VII (FVII) level is one of the risk factors for coronary artery disease. The R353Q polymorphism at codon 353 and the 10 base pair (bp) insertion (0/10 bp) polymorphism of the FVII gene have been reported to be associated with plasma FVII levels in several populations. We investigated these two polymorphisms in 209 male and 214 female healthy Chinese. The allele frequencies of 10 bp and Q were 0.036 and 0.045, respectively. Strong linkage disequilibrium was observed between these two sites (Δ = 0.85, P < 0.001). There were significant genotype associations of these two loci with FVII coagulant activity (FVIIc) and antigen (FVIIAg) levels. Heterozygous individuals had lower FVIIc and FVIIAg levels than those homozygous for the common alleles. When analyzed separately by gender, the 0/10 bp polymorphism was strongly associated with FVIIAg levels in males and females. However, both polymorphisms were significantly associated with FVIIc levels only in the females. The effect of 0/10 bp polymorphism predominated over that of the R353Q polymorphism in a two-way analysis of variance procedure. In the Chinese, the 10 bp insertion may reduce transcription of the FVII gene, leading to the decreased synthesis of FVII protein and thus FVIIc. © 2002 Lippincott Williams & Wilkins, Inc.