Quek S C, Low P S, Saha N, Heng C K
Department of Paediatrics, National University of Singapore, 5 Lower Kent Ridge Road, Singapore 119074.
Ann Hum Genet. 2006 Nov;70(Pt 6):951-7. doi: 10.1111/j.1469-1809.2006.00282.x.
Factor VII (FVII) is an independent risk factor for coronary artery disease. Three polymorphisms of the factor VII gene (F7) were studied in a group of healthy newborns comprising 561 Chinese, 398 Malays and 226 Asian Indians from Singapore. The allele frequencies of 3 polymorphisms (R353Q, Promoter 0/10bp Del/Ins and Intron 7) in the FVII gene were ascertained through genotyping by polymerase chain reaction and restriction digestion of amplified fragments. In Chinese the minor allele frequencies are Q: 0.04, Ins: 0.03, R7: 0.44; Malays, Q: 0.06, Ins: 0.10, R7: 0.41; and Indians, Q: 0.25, Ins: 0.23, R7: 0.43. Strong linkage disequilibrium (Delta > 0.7) is observed between the 0/10 bp and the R353Q sites in all ethnic groups. We conclude that: (i) the prevalence of the minor Q and Ins alleles of the R353Q and 0/10 bp polymorphisms are significantly higher in the Indian newborns than the Chinese and Malays; (ii) the Q allele is significantly associated (p = 0.01) with a lower plasma FVII coagulant level in the Indian and Malay neonates; and this polymorphism explains up to 3.8% of the variance in FVII coagulant levels; (iii) there is no significant difference in allele frequencies of the three polymorphisms between neonates with and without family histories of CAD.
凝血因子VII（FVII）是冠状动脉疾病的一个独立危险因素。在一组来自新加坡的健康新生儿中，对561名中国人、398名马来人和226名亚洲印度人组成的群体研究了凝血因子VII基因（F7）的三种多态性。通过聚合酶链反应基因分型和扩增片段的限制性消化确定了FVII基因中3种多态性（R353Q、启动子0/10bp缺失/插入和内含子7）的等位基因频率。中国人中次要等位基因频率分别为：Q：0.04，插入：0.03，R7：0.44；马来人：Q：0.06，插入：0.10，R7：0.41；印度人：Q：0.25，插入：0.23，R7：0.43。在所有种族群体中，0/10bp和R353Q位点之间观察到强连锁不平衡（Δ>0.7）。我们得出以下结论：（i）印度新生儿中R353Q和0/10bp多态性的次要Q和插入等位基因的患病率显著高于中国人和马来人；（ii）Q等位基因与印度和马来新生儿较低的血浆FVII凝血水平显著相关（p = 0.01）；并且这种多态性解释了FVII凝血水平中高达3.8%的变异；（iii）有和没有CAD家族史的新生儿之间，这三种多态性的等位基因频率没有显著差异。
