Prevalence of FXIII V34L in Populations with Different Cardiovascular Risk
Prevalence of FXIII V34L in Populations with Different Cardiovascular Risk
复制标题
不同心血管风险人群中 FXIII V34L 的患病率
DOI：
10.1055/s-0037-1615243
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发表时间：
1998
影响因子：
6.7
通讯作者：
P. Grant
中科院分区：
文献类型：
--
作者：
L. Mccormack;K. Kain;A. Catto;H. Kohler;M. Stickland;P. Grant
在欧洲创始人口中传播，随后由来自中东的新石器时代农民在西欧传播(5)。我们发现纳瓦拉凝血酶原基因20210 G‘A突变的发生率高于因子V Leiden。在304名健康受试者中，有13人携带该基因变异，均为杂合子，患病率为4.28%，等位基因频率为2.14%(95%可信区间：1.14-3.63%)。尽管与因子V莱顿的已发表数据相比，目前关于这种突变的全球分布的报告要少得多，但我们呈现了迄今为止在健康人群中描述的最高患病率，前提是在对欧洲和巴西人群进行的研究中，患病率在0到3.2%之间(2，7-13)。毫无疑问，凝血酶原基因的20210 G‘A变异在巴斯克人群中的存在，再加上其在巴西非洲人后裔中的相对频率(2%的患病率)，将支持Arruda等人提出的假设。与FVRQ突变相比，nt20210A的世界分布更加均匀，这并不局限于高加索人群，这意味着凝血酶原变体在历史上可能早于因子V Leiden(8)。最后，nt20210A的古老起源也支持人类处于轻微高凝状态的正选择压力。
in the European founding population and was subsequently propagated in Western Europe by the Neolithic farmers migrating from the Middle East (5). We found the prevalence of the 20210 GÕA mutation in the prothrombin gene in Navarra to be higher than that observed for the factor V Leiden. Thirteen out of 304 healthy subjects were shown to carry this genetic variant, all of them in the heterozygous form, which gives a prevalence of 4.28% with an allele frequency of 2.14% (95% CI: 1.14-3.63%). Although much fewer reports on the world distribution of this mutation are currently available when compared with published data for factor V Leiden, we are presenting the highest prevalence described so far in a healthy population, provided that prevalences range between 0 and 3.2% in studies performed with European and Brazilian populations (2, 7-13). The unquestionable presence of the 20210 GÕA variant in the prothrombin gene within the Basque population, taken together with its relative frequency (2% prevalence) among Brazilians of African descent (8) would support the hypothesis proposed by Arruda et al. about a more uniform world distribution of nt20210A when compared with the FVRQ mutation, which is not restricted to Caucasian populations, implying that the prothrombin variant would have originated historically before factor V Leiden (8). Finally, the ancient origin of nt20210A would also support a positive selection pressure of a slightly hypercoagulable state in humans.