Lopaciuk Stanislaw, Windyga Jerzy, Watala Cezary W, Bykowska Ksenia, Pietrucha Tadeusz, Kwiecinski Hubert, Czlonkowska Anna, Kuczynska-Zardzewialy Arleta, Jackson Audrey A, Carew Josephine A, Bauer Kenneth A
Department of Haemostasis and Thrombosis, Institute of Hematology and Blood Transfusion, Warsaw, Poland.
Blood Coagul Fibrinolysis. 2010 Jul;21(5):442-7. doi: 10.1097/MBC.0b013e3283389513.
Polymorphic configurations of the coagulation factor VII gene (F7) are associated with plasma levels of FVII antigen (FVII:Ag) and FVII coagulant activity (FVII:C). Our aim was to determine whether F7 polymorphisms influence risk of ischemic stroke in young adults. One hundred and fifty survivors of ischemic stroke before the age of 45 and an equal number of age and sex-matched controls were genotyped for five F7 polymorphisms: the -A670C transversion, -323 decanucleotide insertion (P + 10), the number (which varies between five and eight) of a 37 base pair repeat polymorphisms in intron 7 (IVS7), amino acid substitution R353Q, and +154AA insertion. 353Q, P + 10 and +154AA were demonstrated to associate with significantly decreased plasma FVII:Ag, whereas -670C and IVS7 seven or higher were associated with a tendency towards increased plasma FVII:Ag. The former three polymorphisms were significantly more common in control individuals than in patients, whereas the latter two were significantly more common in patients than in control individuals. The multiple logistic regression analysis revealed that two F7 polymorphisms, -670C and IVS7 seven or higher, are independent risk factors for ischemic stroke in young adult patients.
凝血因子VII基因（F7）的多态性构型与血浆中FVII抗原（FVII:Ag）水平和FVII凝血活性（FVII:C）相关。我们的目的是确定F7多态性是否影响年轻成年人缺血性中风的风险。对150名45岁之前的缺血性中风幸存者以及同等数量的年龄和性别匹配的对照者进行了5种F7多态性的基因分型：-A670C颠换、-323十核苷酸插入（P + 10）、内含子7（IVS7）中37个碱基对重复多态性的数量（在5到8之间变化）、氨基酸替代R353Q以及+154AA插入。结果显示，353Q、P + 10和+154AA与血浆FVII:Ag显著降低相关，而-670C和IVS7为7或更高与血浆FVII:Ag升高趋势相关。前三种多态性在对照个体中比在患者中显著更常见，而后两种在患者中比在对照个体中显著更常见。多因素逻辑回归分析显示，两种F7多态性，即-670C和IVS7为7或更高，是年轻成年患者缺血性中风的独立危险因素。
