Liu Y, Heng C K, Saha N, Hong S, Low P S
Department of Paediatrics, National University of Singapore, Singapore.
Blood Coagul Fibrinolysis. 2002 Apr;13(3):217-24. doi: 10.1097/00001721-200204000-00007.
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 (Delta = 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.
血浆凝血因子VII（FVII）水平升高是冠状动脉疾病的危险因素之一。据报道，FVII基因第353密码子的R353Q多态性和10个碱基对（bp）插入（0/10 bp）多态性与多个人群的血浆FVII水平相关。我们对209名男性和214名女性健康中国人的这两种多态性进行了研究。10 bp和Q的等位基因频率分别为0.036和0.045。在这两个位点之间观察到强连锁不平衡（Delta = 0.85，P < 0.001）。这两个位点的基因型与FVII凝血活性（FVIIc）和抗原（FVIIAg）水平存在显著关联。杂合个体的FVIIc和FVIIAg水平低于常见等位基因纯合个体。按性别分别分析时，0/10 bp多态性与男性和女性的FVIIAg水平均密切相关。然而，仅在女性中，这两种多态性均与FVIIc水平显著相关。在双向方差分析中，0/10 bp多态性的作用超过了R353Q多态性。在中国人中，10 bp插入可能会减少FVII基因的转录，导致FVII蛋白合成减少，从而使FVIIc降低。
