MedElevator Войти в исследования
← Поиск публикаций

DOI 10.1016/j.isci.2025.114017

Медицинская библиотека · iScience · 2025

Genome-wide association study identifies ABCG1 as a susceptibility locus for tick-borne encephalitis.

Gampawar Piyush G, Sagmeister Manfred G, Růžek Daniel, Schweintzger Nina A, Hofer Edith, Kohlmaier Benno, Švendová Vendula, Bogovič Petra, Zajkowska Joanna M, Krbková Lenka, Štruncová Věra, Mickienė Auksė, Kohlfürst Daniela S, Sonnleitner Astrid, Fořtová Andrea, Berankova Michaela, Pychova Martina, Zavadska Dace, Sallah Neneh, Pichler Alexander, Sedláček Dalibor, Chrdle Aleš, Haudum Christoph, Obermayer-Pietsch Barbara, Hoffmann Per, Nöthen Markus M, Tammesoo Mari-Liis, Metspalu Andres, Husa Petr, Stiasny Karin, Binder Alexander, Berghold Andrea, Strle Franc, Hibberd Martin L, Zenz Werner, EU-TICK-BO study group

СтатьяПеревод в очереди

Аннотация

Tick-borne encephalitis (TBE) is a viral infection of the central nervous system, caused by the tick-borne encephalitis virus (TBEV) presenting clinically as meningitis, meningoencephalitis, and meningoencephalomyelitis. To investigate genetic susceptibility to TBE, and its severe forms, we conducted a genome-wide association study in the European population comprising 1,600 TBE cases and 9,699 controls. We identified several suggestive (p < 1 × 10-5) intronic and exonic variants in ABCG1, the only gene significantly associated with TBE susceptibility. These variants were shown to influence ABCG1 expression in peripheral blood, a finding corroborated by RNA expression analysis. In vitro inhibition or silencing of ABCG1 significantly reduced TBEV replication in both neuronal cells and macrophages, highlighting the potential role of ABCG1 in TBEV biology. Additionally, we detected a genome-wide significant variant within TEX41, located downstream of ZEB1, associated with severe forms of TBE. These findings provide novel insights into the genetic factors underlying TBE susceptibility and severity.

Для цитирования: Gampawar Piyush G, Sagmeister Manfred G, Růžek Daniel, Schweintzger Nina A, Hofer Edith, Kohlmaier Benno, Švendová Vendula, Bogovič Petra, Zajkowska Joanna M, Krbková Lenka, Štruncová Věra, Mickienė Auksė, Kohlfürst Daniela S, Sonnleitner Astrid, Fořtová Andrea, Berankova Michaela, Pychova Martina, Zavadska Dace, Sallah Neneh, Pichler Alexander, Sedláček Dalibor, Chrdle Aleš, Haudum Christoph, Obermayer-Pietsch Barbara, Hoffmann Per, Nöthen Markus M, Tammesoo Mari-Liis, Metspalu Andres, Husa Petr, Stiasny Karin, Binder Alexander, Berghold Andrea, Strle Franc, Hibberd Martin L, Zenz Werner, EU-TICK-BO study group. Genome-wide association study identifies ABCG1 as a susceptibility locus for tick-borne encephalitis.. iScience. 2025. DOI: 10.1016/j.isci.2025.114017.
Подготовка и перевод публикации
Обработка статьи · этапы, ошибки и управление
Загрузка состояния…

История · было → стало

Состояние обновляется каждые 5 секунд, пока блок открыт. Процент показывается только там, где известен объём работы. Пауза останавливает продолжение этапа; текущий запрос к источнику может завершиться.

Тип публикации указан по данным источника. Уровень доказательности автоматически не присваивается.