References

vavilov

Вавиловский журнал генетики и селекции

Vavilov Journal of Genetics and Breeding

2500-3259

Institute of Cytology and Genetics of Siberian Branch of the RAS

10.18699/VJ20.685

vavilov-2847

Research Article

ГЕНЕТИКА ЧЕЛОВЕКА

HUMAN GENETICS

Полиморфизм гена маннозосвязывающего лектина у коренных популяций территорий Арктической зоны Российской Федерации

Polymorphism of the mannose-binding lectin gene in the Arctic indigenous populations of the Russian Federation

https://orcid.org/0000-0002-1605-7859

Терещенко

С. Ю.

Tereshchenko

S. Yu.

legise@mail.ru

https://orcid.org/0000-0001-9984-2029

Смольникова

М. В.

Smolnikova

M. V.

Научно-исследовательский институт медицинских проблем Севера – обособленное подразделение Федерального исследовательского центра «Красноярский научный центр Сибирского отделения Российской академии наук»РоссияScientific Research Institute of Medical Problems of the North, Federal Research Center ”Krasnoyarsk Science Center“ of the Siberian Branch of the Russian Academy of SciencesRussian Federation

2020

31122020

248868875

2020

Терещенко С.Ю., Смольникова М.В.

Tereshchenko S.Y., Smolnikova M.V.

This work is licensed under a Creative Commons Attribution 4.0 License.

https://vavilov.elpub.ru/jour/article/view/2847

Маннозосвязывающий лектин (mannose-binding lectin, MBL) – паттерн-распознающий острофазовый белок, относящийся к системе врожденного иммунитета и активно участвующий в элиминации широкого круга патогенных микроорганизмов посредством активации лектинового пути системы комплемента. Значительная часть человеческой популяции имеет врожденно низкий уровень продукции и/или низкую функциональную активность MBL вследствие носительства различных вариантов гена MBL2, что может модифицировать течение самых разнообразных инфекционных заболеваний. Частота генотипов и гаплотипов полиморфизмов в гене MBL2 имеет значительные популяционные различия. К настоящему времени данные относительно распределения генотипов гена MBL2 в коренных популяциях территорий Арктической зоны Российской Федерации отсутствуют. Цель исследования – изучение частоты и этнической специфики распределения аллельных вариантов полиморфизмов гена MBL2 rs11003125, rs7096206, rs7095891, rs5030737, rs1800450 и rs1800451 и их гаплотипов в популяциях Таймырского Долгано-Ненецкого района Красноярского края (ненцы, долганы-нганасаны, русские). В настоящем исследовании нами впервые получены данные о частотах генотипов и гаплотипов гена MBL2 у коренных народностей, проживающих на территориях Арктической зоны Российской Федерации. Частота встречаемости гаплотипа HYPA, ассоциированного с высокой концентрацией MBL, составила 35.4 % для русских новорожденных Восточной Сибири, что соответствует частотам европейских популяций (27–33 %). У новорожденных арктических популяций частота гаплотипа HYPA была статистически значимо выше, чем у русских, и составила 64 % для ненцев и 56 % для долган-нганасан, что приближается к значениям частот, выявленных для эскимосов и североамериканских индейцев (64–81 %). Популяции ненцев и долган-нганасан демонстрируют существенно более низкие частоты MBL-дефицитных гаплотипов в сравнении с европеоидами Восточной Сибири (3.9, 6.4 и 21.3 % соответственно). Мы предполагаем, что изолированные арктические популяции исторически позже столкнулись с некоторыми внутриклеточными инфекциями (туберкулезом, лепрой) и, в отличие от европеоидных популяций, сохранили сформированную на ранних этапах эволюции человека высокую активность лектинового пути активации комплемента.

Mannose-binding lectin (MBL) is a pattern recognizing acute-phase protein of the innate immunity system actively involved in the elimination of a wide range of pathogenic microorganisms by activating the lectin pathway of the complement system. A significant part of the human population has a congenitally low production level and/or low MBL activity due to the carriage of various MBL2 variants, which can modify the course of a wide range of infectious diseases. The genotype and haplotype frequencies of the MBL2 polymorphisms have significant population differences. So far, data on the prevalence of the MBL2 genotypes in indigenous populations of the Russian Arctic regions have not been available. The aim of the study was to analyze the frequency and ethnic specificity of the distribution of allelic variants of the MBL2 polymorphisms rs11003125, rs7096206, rs7095891, rs5030737, rs1800450 and rs1800451 and their haplotypes in the populations of the Taimyr Dolgans-Nenets region of the Krasnoyarsk territory (Nenets, Dolgans-Nganasans, Russians). Data on the genotype and haplotype frequencies of the MBL2 gene among indigenous peoples of the Russian Arctic territories was first obtained in the study. The HYPA haplotype prevalence associated with a high concentration of MBL amounted to 35.4 % for Russian newborns in Eastern Siberia, corresponding to the one for European populations (27–33 %). In newborns of the Arctic populations, the prevalence of HYPA haplotype was significantly higher than in Russians and amounted to 64 % for Nenets and 56 % for the DolgansNganasans, which is close to the one detected for the Eskimos and North American Indians (64–81 %). Populations of Nenets and Dolgans-Nganasans demonstrated a significantly lower prevalence of MBL-deficient haplotypes compared with Caucasians of Eastern Siberia (3.9, 6.4 and 21.3 % respectively). Isolated Arctic populations were suggested to experience some intracellular infections (tuberculosis, leprosy) historically later and, unlike Caucasoid populations, to retain the high activity of the lectin complement activation pathway formed in the early stages of human evolution.

MBL2полиморфизм геновноворожденныеРоссияарктические популяции

MBL2gene polymorphismnewbornsRussiaArctic populations

This work was supported by the Presidium of the Russian Academy of Sciences, basic research program ”Pilot basic research targeted at the development of the Arctic belt of the Russian Federation“, 2016–2019; and State Contract register no. NIOKTR 1201351112 ”Analysis of prevalence and risk factors and track of major psychosomatic disorders in Siberian children and adolescents“

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