Saha N, Liu Y, Heng C K, Hong S, Low P S, Tay J S
Department of Paediatrics, National University of Singapore.
Arterioscler Thromb. 1994 Dec;14(12):1923-7. doi: 10.1161/01.atv.14.12.1923.
Plasma factor VII activity (factor VIIc) is one of the independent risk factors for coronary artery disease and is controlled by both genetic and environmental factors. Several studies in healthy Caucasian subjects have revealed an association of a common genetic polymorphism at residue 353 (Arg-->Gln) of the factor VII gene with plasma factor VIIc. We have investigated the influence of this polymorphism (factor VII Arg/Gln353) on fasting plasma factor VIIc and antigen (factor VIIag) levels and its interaction with triglyceride levels in 185 healthy Dravidian Indians of both sexes (128 men, 57 women). The frequency of Gln353 has been found to be significantly higher in Dravidian Indians (0.29; confidence interval, 0.27 to 0.30) than in Caucasians (0.10). The distribution of factor VII Arg/Gln353 genotypes was at Hardy-Weinberg equilibrium. The carriers of the Gln353 allele had significantly lower plasma factor VIIc and factor VIIag in men (P < .05). The factor VII Arg/Gln353 polymorphism explained 13% and 11% of the total variance of plasma factor VIIc and factor VIIag, respectively, in men (P < .001) and 6% and 9% in women (P > .1). The genotype-specific correlation of factor VIIc and factor VIIag with triglyceride levels was stronger in carriers of the Gln353 allele (r = .38 and .41; P < .001) than in Arg353 homozygotes (r = .09 and .27; P = .19 and .005, respectively).
血浆因子VII活性(因子VIIc)是冠状动脉疾病的独立危险因素之一,受遗传和环境因素共同控制。多项针对健康白种人的研究显示,因子VII基因第353位残基(精氨酸→谷氨酰胺)的常见基因多态性与血浆因子VIIc相关。我们调查了这种多态性(因子VII Arg/Gln353)对185名健康德拉威族印度男女(128名男性,57名女性)空腹血浆因子VIIc和抗原(因子VIIag)水平的影响及其与甘油三酯水平的相互作用。已发现Gln353在德拉威族印度人中的频率(0.29;置信区间,0.27至0.30)显著高于白种人(0.10)。因子VII Arg/Gln353基因型的分布符合哈迪-温伯格平衡。Gln353等位基因携带者的男性血浆因子VIIc和因子VIIag显著较低(P < 0.05)。因子VII Arg/Gln353多态性分别解释了男性血浆因子VIIc和因子VIIag总变异的13%和11%(P < 0.001),女性中分别为6%和9%(P > 0.1)。Gln353等位基因携带者中因子VIIc和因子VIIag与甘油三酯水平的基因型特异性相关性强于Arg353纯合子(r = 0.38和0.41;P < 0.001)(r = 0.09和0.27;P分别为0.19和0.005)。