The prevalence of VKORC1 alleles in the population of the Republic of Srpska, Bosnia and Herzegovina

Q4 Medicine Scripta Medica Pub Date : 2023-01-01 DOI:10.5937/scriptamed54-43841
V. Vidović, Jelena Bećarević, Žana Radić-Savić, Aljoša Marić, Stojko Vidović, Irina Milovač, N. Maksimović
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Abstract

Background/Aim: Warfarin is one of the most common orally prescribed anticoagulant in patients with deep venous thrombosis, myocardial or cerebral infarctions. The main side effects of non-adequate dose of these drugs are prolonged peripheral or internal bleeding. VKORC1 1173C>T polymorphism (rs9934438) is of particular importance, since carriers of non-wild type allele correlates with the lower dosage of warfarin therapy. Thus, the aim of the research was to determine the distribution of 1173C>T polymorphism in population of the Republic of Srpska, Bosnia and Herzegovina (RS) and to compare results with frequencies in other populations. Methods: A total of 124 healthy participants of both genders were enrolled in the study, from all parts of the RS. Molecular genotyping was performed by real-time PCR, using drug metabolism assays according to the manufacturer's instructions. Results: Of the total number, 22 subjects (17.74 %) were genotyped as CC, 69 subjects (55.65 %) as CT and 33 subjects (26.61 %) as TT. The frequencies of alleles C and T were 45.18 % and 54.82 %, respectively. No statistical significance was found among allele distribution between genders (ch² = 0.236; p = 0.627). All observed genotype frequencies were in Hardy-Weinberg equilibrium. No statistical significance was observed among the frequency of minor T allele between presented findings and other European countries, besides Russia (p = 0.021). Conclusion: This was the first study analysing the distribution of rs9934438 alleles in population of the RS. These findings will be helpful in better and more precise drug prescribing in patients who require anticoagulant therapy.
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波斯尼亚和黑塞哥维那斯普斯卡共和国人口中VKORC1等位基因的患病率
背景/目的:华法林是深静脉血栓、心肌或脑梗死患者最常用的口服抗凝药物之一。这些药物剂量不足的主要副作用是延长外周或内出血。VKORC1 1173C>T多态性(rs9934438)尤为重要,因为非野生型等位基因的携带者与华法林治疗的低剂量相关。因此,研究的目的是确定1173C>T多态性在波斯尼亚和黑塞哥维那斯普斯卡共和国(RS)人群中的分布,并将结果与其他人群的频率进行比较。方法:从RS的各个部分共招募124名男女健康参与者,采用实时荧光定量PCR进行分子基因分型,并根据制造商的说明使用药物代谢试验。结果:CC型22例(17.74%),CT型69例(55.65%),TT型33例(26.61%)。等位基因C和T的频率分别为45.18%和54.82%。性别间等位基因分布差异无统计学意义(ch²= 0.236;P = 0.627)。所有观察到的基因型频率均符合Hardy-Weinberg平衡。除俄罗斯外,本研究结果与其他欧洲国家的小T等位基因频率差异无统计学意义(p = 0.021)。结论:本研究首次分析了rs9934438等位基因在RS人群中的分布,为需要抗凝治疗的患者更好、更准确地用药提供了依据。
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来源期刊
CiteScore
0.60
自引率
0.00%
发文量
13
审稿时长
4 weeks
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