Bilous N I, Abramenko I V, Chumak A A, Diagil I S, Martina Z V
State Institution «National Research Center for Radiation Medicine of the National Academy of Medical Sciences of Ukraine», Melnykova str., 53, Kyiv, 04050, Ukraine.
Probl Radiac Med Radiobiol. 2017 Dec;22:323-331.
to test the method of polymerase chain reaction with following fragments' length restriction to deter mine the rs2124594 polymorphism and to study its contribution in the development of chronic lymphocytic leukemia (CLL) in the post Chornobyl period.
Genotypes of rs2124594 were determined in 109 patients with CLL of B cell origin including 53 patients irradiated due to the Chornobyl NPP accident. Genotypes distribution among CLL patients was compared with healthy persons of European origin (the 1000 Genomes Project data set was used as a reference).
Validity of the tested method was confirmed by direct sequencing. Associations between CLL risks and C allele (OR = 2.37; 95 % CI 1.50-3.73; р = 0.003), CLL risks and CT genotype (OR = 2.10; 95 % CI 1.38-3.21; р = 0.0012) were found. Distributions of rs2124594 genotypes in exposed and non exposed to ionizing radiation CLL patients did not differ.
The association of single nucleotide polymorphisms across the 8q24 chromosome region (positioned at 127180736 and 127183014 near с MYC gene) with CLL risks was confirmed. Modified influence of ionizing radia tion on genetic susceptibility associated with rs2124594 was not found in this pilot study.
测试聚合酶链反应结合片段长度限制的方法，以确定rs2124594多态性，并研究其在切尔诺贝利事故后慢性淋巴细胞白血病（CLL）发病中的作用。
对109例B细胞起源的CLL患者进行rs2124594基因分型，其中53例因切尔诺贝利核电站事故受到辐射。将CLL患者的基因型分布与欧洲裔健康人进行比较（使用千人基因组计划数据集作为参考）。
通过直接测序证实了所测试方法的有效性。发现CLL风险与C等位基因（OR = 2.37；95%CI 1.50 - 3.73；p = 0.003）、CLL风险与CT基因型（OR = 2.10；95%CI 1.38 - 3.21；p = 0.0012）之间存在关联。暴露于和未暴露于电离辐射的CLL患者中rs2124594基因型分布无差异。
证实了8q24染色体区域（位于c-MYC基因附近的127180736和127183014位置）的单核苷酸多态性与CLL风险的关联。在本初步研究中未发现电离辐射对与rs2124594相关的遗传易感性有改变的影响。
