Genetic Variants and Biochemical Parameters Associated with the Risk for Venous Thromboembolism in a Romanian Cohort

Q3 Biochemistry, Genetics and Molecular Biology Biointerface Research in Applied Chemistry Pub Date : 2022-09-10 DOI:10.33263/briac134.308

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Abstract

Thrombophilia can be defined as a predisposition to form clots inappropriately. We studied the carrier status for thrombophilia-related genetic variants in a cohort of 237 Romanian patients who were referred to Synevo Romania between January 2021 and April 2021. Two groups of patients consisting of 117 subjects were evaluated for the underlying causes of a VTE (venous thromboembolism) - group A and group B, consisting of 120 patients with no thromboembolic events. All patients were screened for PC, PC, AT-III, FVL, FII, and MTHFR. The presence of thrombophilia was compared between groups. Out of the 117 patients in group A, 113 (96.58 %), revealed at least one of the analyzed mutations, while just 4 (3.41 %) there were no identified mutations; in comparison, the mutation carrier/non-carrier ratio in group B was 104 patients (86.67%) and 16 (13.33%), respectively. The prevalence of FVL and FII mutation in group A, 21/117 (17.94%) heterozygous and 17/117 (14.53%) heterozygous, respectively, was notably higher when compared to 10/120 (8.33%) FVL heterozygous and 6/120 (5%) FII heterozygous in group B (p=0.034 and p=0.0156). The prevalence of inherited natural anticoagulants was comparable between groups with no statistically significant difference (p=0.6592, p= 0.0992, p= 0.6809).

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罗马尼亚队列中与静脉血栓栓塞风险相关的遗传变异和生化参数

血栓形成倾向可以定义为不适当地形成血栓的倾向。我们研究了2021年1月至2021年4月期间转诊至新罗马尼亚的237名罗马尼亚患者中易血栓形成相关基因变异的携带者状况。由117名受试者组成的两组患者评估了VTE（静脉血栓栓塞症）的潜在原因——a组和B组，由120名无血栓栓塞事件的患者组成。对所有患者进行PC、PC、AT-III、FVL、FII和MTHFR筛查。比较各组间是否存在血栓形成倾向。在A组的117名患者中，113人（96.58%）至少发现了一个分析的突变，而只有4人（3.41%）没有发现突变；相比之下，B组的突变携带者/非携带者比率分别为104例（86.67%）和16例（13.33%）。A组中FVL和FII突变的发生率分别为21/117（17.94%）杂合子和17/117（14.53%）杂合子，与B组的10/120（8.33%）FVL杂合子和6/120（5%）FII杂合子相比，显著更高（p=0.034和p=0.0156）。两组之间遗传性天然抗凝剂的患病率具有可比性，没有统计学显著差异（p=0.0592，p=0.0092，p=0.0809）。

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来源期刊

Biointerface Research in Applied Chemistry CHEMISTRY, APPLIED-

CiteScore

4.80

自引率

0.00%

发文量

256

期刊介绍： Biointerface Research in Applied Chemistry is an international and interdisciplinary research journal that focuses on all aspects of nanoscience, bioscience and applied chemistry. Submissions are solicited in all topical areas, ranging from basic aspects of the science materials to practical applications of such materials. With 6 issues per year, the first one published on the 15th of February of 2011, Biointerface Research in Applied Chemistry is an open-access journal, making all research results freely available online. The aim is to publish original papers, short communications as well as review papers highlighting interdisciplinary research, the potential applications of the molecules and materials in the bio-field. Our aim is to encourage scientists to publish their experimental and theoretical results in as much detail as possible.