Stengård J H, Salomaa V, Rasi V, Vahtera E, Ehnholm C, Krusius T, Perola M, Vartiainen E
Department of Epidemiology and Health Promotion, KTL-National Public Health Institute, Helsinki, Finland.
Blood Coagul Fibrinolysis. 2001 Sep;12(6):445-52. doi: 10.1097/00001721-200109000-00004.
The arginine/glutamine (Arg/Gln) polymorphism of the factor VII (FVII) gene is associated with variation in coagulation activity (FVII:C) and antigen concentration (FVII:Ag) of the FVII protein. We estimated frequency distributions of the Arg and Gln alleles and respective genotypes in North Karelia, and evaluated the utility of this polymorphism, serum lipids, and body mass index (BMI) in the prediction of the distributions of FVII:C and FVII:Ag in a cross-sectional study and in a prospective cohort study. The sample comprised 203 males and 262 females (aged 45-64 years) who were seen twice, in 1992 and 1995. The Arg/Arg genotype and the Arg allele frequencies were among the highest reported so far (86 and 93% respectively, in men; and 89 and 94% respectively, in women). Intragenotypic means of both FVII:C and FVII:Ag were significantly higher in the Arg/Arg genotype than in the Arg/Gln genotype in both genders. Also, intragenotypic variances were different in different genotypes in females. Regression relationships between the FVII:C and FVII:Ag and serum triglyceride, and total cholesterol levels and BMI were positive in both genotypes in both genders, which has not been found in other populations. In prospective analyses, average changes in the FVII:C and FVII:Ag were genotype specific in both genders, as were also regression relationships between these changes and changes in triglyceride level in females (P = 0.065 for FVII:C and P = 0.061 for FVII:Ag). A consequence of these complex genetic architectures is that predictive utility of the Arg/Gln genotypes depends on population, gender, serum lipid levels, and BMI, and changes in these factors over time.
凝血因子VII（FVII）基因的精氨酸/谷氨酰胺（Arg/Gln）多态性与FVII蛋白的凝血活性（FVII:C）及抗原浓度（FVII:Ag）的变化相关。我们估算了北卡累利阿地区Arg和Gln等位基因以及各自基因型的频率分布，并在一项横断面研究和一项前瞻性队列研究中评估了这种多态性、血脂及体重指数（BMI）在预测FVII:C和FVII:Ag分布方面的效用。样本包括203名男性和262名女性（年龄在45 - 64岁之间），他们在1992年和1995年接受了两次检查。Arg/Arg基因型和Arg等位基因频率是迄今为止报道的最高频率之一（男性分别为86%和93%；女性分别为89%和94%）。在男女两性中，Arg/Arg基因型的FVII:C和FVII:Ag的基因型内均值均显著高于Arg/Gln基因型。此外，女性不同基因型的基因型内方差也不同。在男女两性的两种基因型中，FVII:C和FVII:Ag与血清甘油三酯、总胆固醇水平及BMI之间的回归关系均为正，这在其他人群中尚未发现。在前瞻性分析中，FVII:C和FVII:Ag的平均变化在男女两性中均具有基因型特异性，女性中这些变化与甘油三酯水平变化之间的回归关系也具有基因型特异性（FVII:C为P = 0.065，FVII:Ag为P = 0.061）。这些复杂遗传结构的一个结果是，Arg/Gln基因型的预测效用取决于人群、性别、血脂水平、BMI以及这些因素随时间的变化。
