Federal State Budgetary Educational Institution of Further Professional Education "Russian Medical Academy of Continuous Professional Education" of the Ministry of Healthcare of the Russian Federation, Barrikadnaya str., 2/1, bldg. 1, Moscow, Russian Federation, 125993.
Kazan State Medical Academy - Branch Campus of the Federal State Budgetary Educational Institution of Further Professional Education Russian Medical Academy of Continuous Professional Education of the Ministry of Healthcare of the Russian Federation, Moushtari str., 11, Kazan, Russian Federation, 420012.
Mol Biol Rep. 2020 May;47(5):3377-3387. doi: 10.1007/s11033-020-05416-4. Epub 2020 Apr 17.
This study was aimed to investigate the prevalence of CYP2C92 (p.430C > T, rs1799853), CYP2C93 (p.1075A > C, rs1057910), CYP4F23 (p.1297G > A, rs2108622), CYP2C192 (p.681G > A, rs4244285), CYP2C193 (p.636G > A, rs4986893), CYP2C1917 (p.1260C > A, rs12248560), ABCB1 (p.3435C > T, rs1045642), CYP2D64 (p.1846G > A, rs3892097), SLCO1B15 (p.521T > C, rs4149056) and CES1 (p.1168-33A > C, rs2244613) among Tatars and Balkars ethnic groups living in Russia to provide a basis for future clinical studies concerning on understanding of population-level differences in drug response. The study involved 341 apparently healthy, unrelated, and chronic medication-free volunteers of both sexes of ethnic groups of Tatars and Balkars living in Volga and Caucasus regions of Russia. Genotyping was performed using real-time polymerase chain reaction-based methods. The allelic prevalence of studied markers in ethnic groups were compared with Russians as a largest ethnic group in Russia. Statistically significant differences for the following gene polymorphisms were found between both ethnic groups in respect of different markers and with Russians. Our study shows differences in prevalence of the main relevant pharmacogenetic markers in Tatars and Balkars. These findings should be taken into consideration for personalization algorithms development and pharmacogenetics implementation in regions with ethnic minorities as Russia has.
本研究旨在调查 CYP2C92（p.430C>T，rs1799853）、CYP2C93（p.1075A>C，rs1057910）、CYP4F23（p.1297G>A，rs2108622）、CYP2C192（p.681G>A，rs4244285）、CYP2C193（p.636G>A，rs4986893）、CYP2C1917（p.1260C>A，rs12248560）、ABCB1（p.3435C>T，rs1045642）、CYP2D64（p.1846G>A，rs3892097）、SLCO1B15（p.521T>C，rs4149056）和 CES1（p.1168-33A>C，rs2244613）在俄罗斯鞑靼人和巴尔卡尔人族群中的流行情况，为未来的临床研究提供基础，以了解药物反应的人群水平差异。研究纳入了 341 名来自俄罗斯伏尔加河和高加索地区的、不同性别、无亲缘关系且无慢性用药史的鞑靼人和巴尔卡尔人族群的健康志愿者。采用实时聚合酶链反应（PCR）法进行基因分型。将研究标记物的等位基因频率与俄罗斯人（俄罗斯最大的族群）进行比较。在不同标记物和与俄罗斯人比较方面，在这两个族群中发现了以下基因多态性的统计学显著差异。本研究显示了鞑靼人和巴尔卡尔人主要相关药物遗传学标记物的流行率存在差异。在拥有少数民族的地区，如俄罗斯，这些发现应纳入个性化算法的发展和药物遗传学的实施中。
