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1691G>A F5(导致因子 V 莱顿突变)在欧洲的等位基因频率分布,包括斯拉夫人群。

Allele frequency distribution of 1691G >A F5 (which confers Factor V Leiden) across Europe, including Slavic populations.

出版信息

J Appl Genet. 2013 Nov;54(4):441-446. doi: 10.1007/s13353-013-0166-9.

DOI:10.1007/s13353-013-0166-9
PMID:23959593
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3825156/
Abstract

UNLABELLED

The allele 1691A F5, conferring Factor V Leiden, is a common risk factor in venous thromboembolism. The frequency distribution for this allele in Western Europe has been well documented; but here data from Central, Eastern and South-Eastern Europe has been included. In order to assess the significance of the collated data, a chi-squared test was applied, and Tukey tests and z-tests with Bonferroni correction were compared.

RESULTS

A distribution with a North-Southeast band of high frequency of the 1691A F5 allele was discovered with a pocket including some Southern Slavic populations with low frequency. European countries/regions can be arbitrarily delimited into low (group 1, <2.8 %, mean 1.9 % 1691A F5 allele) or high (group 2, ≥2.8 %, mean 4.0 %) frequency groups, with many significant differences between groups, but only one intra-group difference (the Tukey test is suggested to be superior to the z-tests).

CONCLUSION

In Europe a North-Southeast band of 1691A F5 high frequency has been found, clarified by inclusion of data from Central, Eastern and South-Eastern Europe, which surrounds a pocket of low frequency in the Balkans which could possibly be explained by Slavic migration. There seem to be no indications of variation in environmental selection due to geographical location.

摘要

未标记

等位基因 1691A F5,赋予因子 V Leiden ,是静脉血栓栓塞的常见危险因素。该等位基因在西欧的频率分布已有充分记录;但此处包括了来自中欧、东欧和东南欧的数据。为了评估合并数据的意义,应用了卡方检验,并比较了 Tukey 检验和带有 Bonferroni 校正的 z 检验。

结果

发现了一个具有高 1691A F5 等位基因频率的北东南带分布,其中包括一些南斯拉夫人群的低频口袋。欧洲国家/地区可以任意划分为低(第 1 组,<2.8%,平均 1.9%的 1691A F5 等位基因)或高(第 2 组,≥2.8%,平均 4.0%)频率组,组间有许多显著差异,但只有一个组内差异(建议使用 Tukey 检验优于 z 检验)。

结论

在欧洲,发现了一个北东南带的 1691A F5 高频率,这一发现通过纳入来自中欧、东欧和东南欧的数据得到了澄清,在巴尔干地区形成了一个低频口袋,这可能可以用斯拉夫移民来解释。似乎没有迹象表明地理位置引起的环境选择存在差异。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f094/3825156/250eec785be7/13353_2013_166_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f094/3825156/250eec785be7/13353_2013_166_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f094/3825156/250eec785be7/13353_2013_166_Fig1_HTML.jpg

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