克罗地亚人群中ABCG2和SLCO1B1基因多态性

IF 1.2 4区医学 Q2 ANTHROPOLOGY

Annals of Human Biology Pub Date : 2022-12-01 DOI:10.1080/03014460.2022.2140826

Božina T, Ganoci L, Karačić E, Šimičević L, Vrkić-Kirhmajer M, Klarica-Domjanović I, Križ T, Sertić Z, Božina N

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引用次数: 0

摘要

背景:有机阴离子转运多肽1B1 (OATP1B1)和atp结合盒亚家族G成员2 ABCG2是参与内源性底物和包括药物在内的外源物运输的重要转运体。这些转运蛋白的遗传多态性对转运蛋白的活性有影响。等位基因变异的频率存在显著的种族间变异。目的:测定克罗地亚欧洲血统人群中ABCG2和SLCO1B1基因的等位基因和基因型频率。对象和方法:共纳入905名受试者(女性482名)。ABCG2 C . 421c > A (rs2231142)和SLCO1B1 C . 521t > C (rs4149056)采用TaqMan®DME基因分型方法进行实时聚合酶链反应(PCR)分型。结果:在ABCG2 c.421C > A中，CC、CA和AA基因型的频率分别为81.4%、17.8%和0.8%。变异ABCG2 421a等位基因的频率为9.7%。SLCO1B1 C . 521t > C的TT、TC和CC基因型频率分别为61.7%、34.8%和3.5%。变异SLCO1B1 521c等位基因的频率为20.9%。结论:克罗地亚人群中ABCG2和SLCO1B1等位基因变异和基因型的频率与其他欧洲人群一致。药物遗传学分析可以用于个体化药物治疗，并将药物不良反应的风险降至最低。

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ABCG2 and SLCO1B1 gene polymorphisms in the Croatian population.

Background: Organic anion-transporting polypeptide 1B1 (OATP1B1) and the ATP-binding cassette subfamily G member 2, ABCG2, are important transporters involved in the transport of endogenous substrates and xenobiotics, including drugs. Genetic polymorphisms of these transporters have effect on transporter activity. There is significant interethnic variability in the frequency of allele variants.

Aim: To determined allele and genotype frequencies of ABCG2 and SLCO1B1 genes in Croatian populations of European descent.

Subjects and methods: A total of 905 subjects (482 women) were included. Genotyping for ABCG2 c.421C > A (rs2231142) and for SLCO1B1 c.521T > C (rs4149056), was performed by real-time polymerase chain reaction (PCR) using TaqMan^® DME Genotyping Assays.

Results: For ABCG2 c.421C > A, the frequency of CC, CA and AA genotypes was 81.4%, 17.8% and 0.8% respectively. The frequency of variant ABCG2 421 A allele was 9.7%. For SLCO1B1 c.521T > C, the frequency of TT, TC and CC genotypes was 61.7%, 34.8% and 3.5% respectively. The frequency of variant SLCO1B1 521 C allele was 20.9%.

Conclusion: The frequency of the ABCG2 and SLCO1B1 allelic variants and genotypes in the Croatian population is in accordance with other European populations. Pharmacogenetic analysis can serve to individualise drug therapy and minimise the risk of developing adverse drug reactions.

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来源期刊

Annals of Human Biology 生物-公共卫生、环境卫生与职业卫生

CiteScore

3.40

自引率

5.90%

发文量

审稿时长

1 months

期刊介绍： Annals of Human Biology is an international, peer-reviewed journal published six times a year in electronic format. The journal reports investigations on the nature, development and causes of human variation, embracing the disciplines of human growth and development, human genetics, physical and biological anthropology, demography, environmental physiology, ecology, epidemiology and global health and ageing research.