Factor V (His 1299 Arg) in young Turkish patients with cerebral infarct.

Haemostasis Pub Date : 2000-05-01 DOI:10.1159/000022533
N Akar, E Yilmaz, E Akar, G Deda, T Sipahi
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引用次数: 20

Abstract

Inherited gene defects related to the coagulation system have been reported as risk factors for stroke. Recently, a genetic component in the factor V (FV) gene that contributes to activated protein C resistance both in the presence and absence of FV 1691 G-->A was reported. This highly conserved FV gene haplotype was marked as R2 polymorphism, an A to G alteration at position 4070 in exon 13 that predicts the His 1299 Arg substitutions. The aim of this study was to evaluate the role of this mutation in Turkish children with ischemic infarct. The case-control study included 48 patients with cerebral infarction; all were 18 years of age or younger (range: 10 months to 18 years). Ten (20.8%) of the 48 patients were found to carry the FV 1299 His-->Arg mutation, one being homozygous. One patient who had a combination of FV 1691 G-->A and protein C deficiency also carried the FV 4070A mutation. A homozygous FV 1299A patient had a prothrombin (PT) 20210A mutation in the heterozygous state. The cerebral infarct risk for FV 1299 was found to be 2.4 (95% confidence interval 0.9-6.8) for all groups. When underlying conditions were excluded, the incidence of FV 1299 was found to be 8/35 (22.8%), but the risk was almost the same. When two other common thrombophilic mutations (i.e. FV 1691 G-->A and PT 20210 G-->A) were excluded, the incidence of FV 4070 mutation increased to 7/21 (33.3%). The risk also increased to 3.9 (95% confidence interval 1.2-12.3).

土耳其年轻脑梗死患者的因子V (His 1299 Arg)
与凝血系统有关的遗传基因缺陷已被报道为中风的危险因素。最近,有报道称,在FV 1691 G- > a存在和不存在的情况下,因子V (FV)基因中的一个遗传成分都有助于激活蛋白C抗性。这种高度保守的FV基因单倍型被标记为R2多态性,在13外显子4070位A到G的改变预测了His 1299 Arg的替换。本研究的目的是评估这种突变在缺血性梗死的土耳其儿童中的作用。病例对照研究纳入48例脑梗死患者;所有患者年龄均在18岁或以下(范围:10个月至18岁)。48例患者中有10例(20.8%)携带FV 1299 His- >Arg突变,1例为纯合突变。一名合并FV 1691 G- > a和蛋白C缺乏症的患者也携带FV 4070A突变。纯合子FV 1299A患者在杂合子状态下有凝血酶原(PT) 20210A突变。所有组的FV 1299脑梗死风险均为2.4(95%可信区间为0.9-6.8)。当排除基础疾病时,发现FV 1299的发病率为8/35(22.8%),但风险几乎相同。当排除另外两种常见的亲血栓性突变(即FV 1691 G- >A和PT 20210 G- >A)时,FV 4070突变的发生率增加到7/21(33.3%)。风险也增加到3.9(95%可信区间1.2-12.3)。
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