bloodjourГематология и трансфузиологияRussian journal of hematology and transfusiology0234-57302411-3042ООО Издательский дом «Практика»10.18821/0234-5730/2016-61-4-183-189bloodjour-32Research ArticleОРИГИНАЛЬНЫЕ СТАТЬИORIGINAL ARTICLESАссоциации полиморфизма ряда генов врожденного иммунитета с риском развития хронических лимфопролиферативных заболеванийAssociations of polymorphism in several innate immunity genes with the risk of the development of chronic lymphoproliferative diseaseshttps://orcid.org/0000-0002-9890-4264НазароваЕ. Л.NazarovaE. L.

Назарова  Елена  Львовна,  кандидат  медицинских  наук,  ведущий научный сотрудник лаборатории иммунологии лейкозов; Researcher ID:  G-6806-2015.

610027, Киров

Nazarova Elena L.,MD, PhD, leading researcher; Researcher ID: G-6806-2015.

Kirov, 610027

nazarova.yelena@mail.ruhttps://orcid.org/0000-0003-1527-3055ДемьяноваВ. Т.DemiyanovaV. T.

610027, Киров

Kirov, 610027

https://orcid.org/0000-0001-6036-4250ШардаковВ. И.ShardakovV. I.

610027, Киров

Kirov, 610027

https://orcid.org/0000-0001-9692-2541ЗотинаЕ. Н.ZotinaE. N.

610027, Киров

Kirov, 610027

https://orcid.org/0000-0002-1447-0199ДокшинаИ. А.DokshinaI. A.

610027, Киров

Kirov, 610027

ФГБУН «Кировский научно-исследовательский институт гематологии и переливания крови» ФМБА РоссииРоссияS.M. Kirov Research Institute of Hematology and Blood TransfusionRussian Federation201628022019614183189Copyright © Назарова Е.Л., Демьянова В.Т., Шардаков В.И., Зотина Е.Н., Докшина И.А., 20192019Назарова Е.Л., Демьянова В.Т., Шардаков В.И., Зотина Е.Н., Докшина И.А.Nazarova E.L., Demiyanova V.T., Shardakov V.I., Zotina E.N., Dokshina I.A.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.htjournal.ru/jour/article/view/32

Комплексное взаимодействие между факторами внешней среды и генами организма человека вносит заметный вклад в развитие хронических лимфопролиферативных заболеваний (ХЛПЗ) у лиц с различными мутациями генов, в том числе врожденного иммунного ответа. Обследовали 51 больного хроническим лимфолейкозом (ХЛЛ) и 70 больных множественной миеломой (ММ). Контрольную группу составили 47 здоровых лиц, не имеющих онкогематологических заболеваний, сопоставимых по гендерным и возрастным характеристикам с больными ХЛПЗ. У обследуемых определяли распространенность 20 генетических полиморфизмов (single-nucleotide polymorphism– SNP) в 14 генах врожденного иммунного ответа. Обнаружено, что у больных ХЛЛ статистически значимо чаще встречался гаплотип АА гена Toll-подобного рецептора (Toll-like receptor– TLR) 3в позиции -421, чем в контрольной группе (OR 18,56; p = 0,005). При ММ отмечена связь риска развития заболевания с полиморфизмом генов IL-10-1082, TLR2-753 и TLR3-421. Кроме того, найдены генетические маркеры быстро прогрессирующих форм ХЛЛ и ММ (гаплотипы СG+ GG гена IL-6 и гаплотипы GG+ GA гена IL-17A соответственно). Можно предположить возможную связь полиморфизма генов IL-6, IL-10, IL-17A, TLR2 и TLR3 с развитием ХЛПЗ и рекомендовать использовать данные маркеры в качестве ранних дополнительных диагностических и прогностических критериев.

The complex interaction between environmental factors and human genes makes a significant contribution to the development of chronic lymphoproliferative diseases (CLPD) in individuals with mutations in various genes, including the innate immune response genes. We examined 51 patients with chronic lymphocytic leukemia (CLL) and 70 multiple myeloma (MM) patients. The control group consisted of 47 healthy persons without hematological malignancies. The patients from control group were matched for gender and age characteristics of CLPD patients. In observed persons there was determined the prevalence of genetic polymorphisms (single-nucleotide polymorphism –SNP) in the innate immune response genes including 20 genetic polymorphisms (single-nucleotide polymorphism –SNP) in 14 genes of the innate immune response. In patients with CLL haplotype AA for the TLR3 gene in -421 position was revealed to occur significantly more often than in the control group (OR: 18.56; p= 0.005). In MM patients there was noted the relation between the risk of the development of the disease and gene polymorphism for IL-10-1082, TLR2-753 and TLR3-421. There were found genetic markers for rapidly progressing forms of CLL and MM (CG + GG haplotype of the gene IL-6 and haplotypes GG + GA gene IL-17A, respectively). It is possible to assume a probable link of gene polymorphisms for IL-6, IL-10, IL-17A, TLR2 and TLR3 with the development of the CLPD and recommend these markers as early additional diagnostic and prognostic criteria.

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The authors declare that there are no conflicts of interest present.