土耳其人群中凝血因子V莱顿突变的频率及地理分布

Factor V Leiden Mutation Frequency and Geographical Distribution in Turkish Population.

作者信息

Yıldız Eray, Türkmen Funda Müşerref

机构信息

Department of Internal Medicine, Division of Allergy and Clinical Immunology, Meram School Medicine, Necmettin Erbakan University, Konya, Turkey.

Department of Internal Medicine, Haydarpasa Numune Education and Research Hospital, Istanbul, Turkey.

出版信息

J Transl Int Med. 2020 Dec 31;8(4):268-273. doi: 10.2478/jtim-2020-0040. eCollection 2020 Dec.

DOI:10.2478/jtim-2020-0040

PMID:33511054

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7805290/

Abstract

BACKGROUND AND OBJECTIVE

Thrombophilia is a term used to define the conditions creating a tendency toward thrombosis. Factor V Leiden (FVL) is the most frequently observed genetic risk factor, and its frequency varies among societies and ethnicities. In this study, our aim is to identify the frequency of FVL mutation in patients with thrombosis, the frequency of FVL mutation for each thrombosis disease, whether there is any difference in the geographical distribution of FVL mutation in the Turkish population, correlation with age and gender, and correlation with arterial and venous thrombosis.

METHODS

This is an observational case-control and retrospective study. Cases with the FVL mutation examination with clinical provisional diagnosis of arterial and/or venous thrombosis delivered and with the thrombosis proven by radiological visualization methods and laboratory examinations have been planned to be considered and assessed as cases with thrombosis.

RESULTS

A total of 67 patients with thrombosis and 22 patients without thrombosis have been included within the study. Twenty-six of the cases with thrombosis were from the Black Sea region, 21 were from Eastern Anatolia, 12 were from Central Anatolia, 5 were from Marmara, and 3 were from Southeastern Anatolia. Eleven of the cases without thrombosis were from the Black Sea region, 1 was from Eastern Anatolia, 5 were from Central Anatolia, 2 were from Marmara, 1 was from Southeastern Anatolia, and 2 were from the Aegean region. The significance was resulted from the identification of thrombosis prevalence rate as significantly high in the Eastern Anatolian region.

DISCUSSION

FVL mutation frequency is quite common in our country, and there are significant differences particularly in terms of regional distribution. Furthermore, FVL mutation is solely not the risk factor for thrombosis, and other coexisting genetic and acquired risk factors are substantial causes for the development of thrombosis.

摘要

背景与目的

血栓形成倾向是用于定义导致血栓形成倾向的疾病的术语。凝血因子V莱顿突变（FVL）是最常观察到的遗传风险因素，其频率在不同社会和种族之间有所不同。在本研究中，我们的目的是确定血栓形成患者中FVL突变的频率、每种血栓形成疾病的FVL突变频率、土耳其人群中FVL突变的地理分布是否存在差异、与年龄和性别的相关性以及与动脉和静脉血栓形成的相关性。

方法

这是一项观察性病例对照和回顾性研究。计划将临床初步诊断为动脉和/或静脉血栓形成且经放射学可视化方法和实验室检查证实有血栓形成的FVL突变检查病例视为血栓形成病例并进行评估。

结果

本研究共纳入67例血栓形成患者和22例无血栓形成患者。血栓形成病例中，26例来自黑海地区，21例来自东安纳托利亚，12例来自中安纳托利亚，5例来自马尔马拉，3例来自东南安纳托利亚。无血栓形成的病例中，11例来自黑海地区，1例来自东安纳托利亚，5例来自中安纳托利亚，2例来自马尔马拉，1例来自东南安纳托利亚，2例来自爱琴海地区。结果显示东安纳托利亚地区的血栓形成患病率显著较高。