nogrЭкспериментальная и клиническая гастроэнтерологияExperimental and Clinical Gastroenterology1682-8658«Global Media Technologies»10.31146/1682-8658-ecg-233-1-125-136nogr-2952Research ArticleОБМЕН ОПЫТОМEXPERIENCE EXCHANGEФенотипическое разнообразие муковисцидоза: патогенез и модифицирующие факторыPhenotypic diversity of cystic fibrosis:pathogenesis and modifying factorshttps://orcid.org/0000-0003-2066-0009МокроусоваД. О.MokrousovaD. O.noemail@neicon.ruhttps://orcid.org/0000-0001-5035-6396ЕфремоваА. С.EfremovaA. S.noemail@neicon.ruhttps://orcid.org/0000-0003-0503-6371КаширскаяН. Ю.KashirskayaN. Yu.noemail@neicon.ruhttps://orcid.org/0000-0001-7308-7280ХавкинА. И.KhavkinA. I.khavkin@nikid.ruhttps://orcid.org/0000-0003-2438-1605ГольдштейнД. В.GoldshteinD. V.noemail@neicon.ruФедеральное государственное бюджетное научное учреждение «Медико-генетический научный центр имени академика Н.П. Бочкова»РоссияResearch Center for Medical GeneticsRussian FederationФедеральное государственное бюджетное научное учреждение «Медико-генетический научный центр имени академика Н.П. Бочкова»; Государственное бюджетное учреждение здравоохранения Московской области «Московский областной научно-исследовательский клинический институт им. М.Ф. Владимирского»РоссияResearch Center for Medical Genetics; Moscow Region Research and Clinical Institute n. a. M.F. VladimirskiyRussian FederationГБУЗ МО «Научно-исследовательский клинический институт детства» Министерства здравоохранения Московской области; Федеральное государственное автономное образовательное учреждение высшего образования «Белгородский государственный исследовательский университет» Министерства науки и высшего образования Российской ФедерацииРоссияResearch Clinical Institute of Childhood, Ministry of Health of the Moscow Region; Belgorod State Research University. Ministry of Science and Higher Education of the Russian FederationRussian Federation20251701202501125136Copyright © Мокроусова Д.О., Ефремова А.С., Каширская Н.Ю., Хавкин А.И., Гольдштейн Д.В., 20252025Мокроусова Д.О., Ефремова А.С., Каширская Н.Ю., Хавкин А.И., Гольдштейн Д.В.Mokrousova D.O., Efremova A.S., Kashirskaya N.Y., Khavkin A.I., Goldshtein D.V.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.nogr.org/jour/article/view/2952

Патогенные варианты гена CFTR являются инициирующим и доминирующим генетическим фактором, определяющим фенотипические проявления при муковисцидозе (МВ). МВ является моногенным заболеванием, однако сильное влияние на тяжесть протекания МВ оказывают гены-модификаторы, которые сами по себе не вызывают заболевание. Индивидуальные полиморфизмы генов-модификаторов могут как усиливать, так и ослаблять симптомы, что объясняет сильно варьирующиеся клинические проявления у людей с одинаковым генотипом по CFTR.

Pathogenic variants of the CFTR gene are the initiating and dominant genetic factor determining phenotypic manifestations in cystic fibrosis (CF). CF is a monogenic disease; however, modifier genes that do not cause the disease themselves have a strong influence on the severity of CF. Individual polymorphisms of modifier genes can both exacerbate and attenuate symptoms, explaining the highly variable clinical manifestations in people with the same CFTR genotype.

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