Distribution of rs2124594 genotypes in chronic lymphocytic leukemia patients depending on radiation anamnesis

: Meta roboty: aprobuvaty metod polimeraznoi lantsiugovoi reaktsii z nastupnym restryktsiynym analizom dlia vyz nachennia rs2124594 i podal'shogo doslidzhennia vnesku u rozvytok khronichnoi limfotsytarnoli leykemii (KhLL) v pisliachornobyl's'kyy period.Metody. Vyznachennia genotypiv za polimorfizmom rs2124594 provedeno u 109 khvorykh na khronichnu limfotsytar nu leykemiiu (KhLL) V klitynnogo pokhodzhennia, v tomu chysli 53 oprominenykh vnaslidok Chornobyl's'koi katastro fy. Rozpodil genotypiv u khvorykh na KhLL porivnianyy z grupoiu praktychno zdorovykh osib ievropeys'kogo pokhod zhennia (dani 1000 Genomes Project).Rezul'taty. Validnist' aprobovanogo metodu pidtverdzhena priamym sekvenuvanniam. Vstanovleno pidvyshchennia ryzyku rozvytku KhLL za nosiystva polimorfnoi aleli S (OR = 2,37; 95 % CI 1,50–3,73; r = 0,003) ta genotypu ST (OR = 2,10; 95 % CI 1,38–3,21; r = 0,0012). Rozpodil genotypiv sered oprominenykh i neoprominenykh khvorykh na KhLL ne rozrizniavsia.Vysnovky. Pidtverdzhena asotsiatsiia polimorfnykh variantiv u diliankakh 127180736 i 127183014 khromosomy 8q24 poblyzu gena s MYC z ryzykom rozvytku KhLL. Modyfikuiuchogo vnesku ionizuiuchogo vyprominennia na realizatsiiu genetychnoi skhyl'nosti do KhLL, obumovlenoi polimorfnymy variantamy rs2124594, v danomu pilotnomu doslidzhenni ne vyiavleno. METHODS: 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). RESULTS: 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. CONCLUSIONS: 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.