pediatricjournalАрхив педиатрии и детской хирургииArchives of Pediatrics and Pediatric Surgery2949-46643033-6783НИКИ детства Минздрава Московской области10.31146/2949-4664-apps-2-3-15-20pediatricjournal-106Research ArticleГЕНЕТИКАGENETICSГенетические аспекты целиакииGenetic aspects of celiac diseaseРозинаМ. А.RosinaM. A.noemail@neicon.ruhttps://orcid.org/0000-0003-4461-4322ТрапезниковаА. Ю.TrapeznikovaA. Yu.ay.trapeznikova@yandex.ruhttps://orcid.org/0000-0001-7308-7280ХавкинА. И.KhavkinA. I.noemail@neicon.ruhttps://orcid.org/0000-0003-3364-610XЯблоковаЕ. А.YablokovaE. A.noemail@neicon.ruФГБОУ ВПО «Санкт-Петербургский государственный педиатрический медицинский университет» Минздрава РоссииРоссияSaint-Petersburg State Pediatric Medical UniversityRussian FederationНаучно-исследовательский клинический институт детства Министерства здравоохранения Московской области; Белгородский государственный национальный исследовательский университетРоссияResearch Clinical Institute of Childhood, Ministry of Health of the Moscow Region; Belgorod National Research UniversityRussian FederationНаучно-исследовательский клинический институт детства Министерства здравоохранения Московской области; ФГАОУ ВО Первый Московский государственный университет им. И.М. Сеченова Минздрава России (Сеченовский Университет)РоссияResearch Clinical Institute of Childhood, Ministry of Health of the Moscow Region; First Moscow State University named after I.M. Sechenov of the Ministry of Health of the Russian Federation (Sechenov University)Russian Federation202403022025231520Copyright © Розина М.А., Трапезникова А.Ю., Хавкин А.И., Яблокова Е.А., 20252025Розина М.А., Трапезникова А.Ю., Хавкин А.И., Яблокова Е.А.Rosina M.A., Trapeznikova A.Y., Khavkin A.I., Yablokova E.A.This work is licensed under a Creative Commons Attribution 4.0 License.https://journal.nikid.ru/jour/article/view/106

На сегодняшний день среди хронических иммунноосредованных системных заболеваний целиакия занимает одно из ведущих мест по степени изученности и разработанности в гастроэнтерологии и терапии. Несмотря на данные факты целиакия представляет собой интерес с точки зрения научных изысканий, так как доказана прямая корреляция между болезнью и генетически-детерминированной составляющей, исследования в направлении которой обещают врачам найти превентивные точки воздействия в совокупности со знаниями иммунобиологии и генетики. Целью данного литературного обзора является анализ роли НLA и не-HLA генов в развитии целиакии. Материалы и методы. Были собраны и проанализированы современные научные статьи, опубликованные в период с 2019 по 2024 гг. Поиск информации, проводился в базах Pubmed, Scopus, Elibrary, Global Health, КиберЛенинка. Результаты. Наличие аллелей риска HLA - это необходимый, но не единственный генетический фактор для развития заболевания. Типирование HLA обладает большой предсказательной ценностью, и отсутствие HLA-DQ2/-DQ8 исключает наличие целиакии у предрасположенных к ней лиц. Дополнительные не-HLA геномные локусы, идентифицированные как связанные с целиакией, вероятно объясняют добавочные 32% генетической наследуемости. Говоря в общих терминах, наличие глютена в пищевом рационе является необходимым фактором. При этом целиакия не развивается без глютена, даже при наличии генетической предрасположенности. Обсуждение. В поисковой биомедицинской системе PubMed на момент начала августа 2024 года, содержится 10 111 публикаций, посвященных целиакии за предшествующие десять лет, а в Elibrary - 4804. Анализ тематики статей последних лет говорит о том, что основной фокус внимания направлен на генетические и иммунобиологические аспекты болезни в возрастном аспекте, нацеленные в большей перспективе на возможность составления генетических карт и редактирования генома для превентивизации и даже элиминации заболевания в будущем.

Today, among chronic immune-mediated systemic diseases, celiac disease, or gluten enteropathy, occupies one of the leading places in terms of the degree of study and development in gastroenterology and therapy. Despite these facts, celiac disease is of interest from the point of view of scientific research, as a direct correlation between the disease and the genetically determined component has been proven, research in the direction of which promises doctors to find preventive points of impact in combination with knowledge of immunobiology and genetics. The purpose of this literary review is to analyze current literary data on this topic. Materials and methods. Modern scientific articles published in the period from 2019 to 2024 were collected and analyzed. Information was searched in the databases Pubmed, Scopus, Elibrary, Global Health, CyberLeninka. Results. The presence of HLA risk alleles is a necessary, but not the only genetic factor for development. HLA typing has great predictive value, and the absence of HLA-DQ2/-DQ8 excludes the presence of celiac disease in those predisposed to it. Additional non-HLA genomic loci identified as associated with celiac disease probably explain the additional 32% of genetic heritability. Speaking in general terms, the presence of gluten in the diet is a necessary factor. At the same time, celiac disease does not develop without gluten, even if there is a genetic predisposition. Discussion. The PubMed biomedical knowledge search engine, at the beginning of August 2024, contains 10 111 publications on gluten enteropathy over the previous ten years, and 4804 in Elibrary. An analysis of the topics of articles in recent years suggests that the main focus is on the genetic and immunobiological aspects of the disease in the age aspect, aimed at a greater.

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