Parkinsonism & related disorders · 2024
Clonal hematopoiesis with DNMT3A mutations is associated with multiple system atrophy.
СтатьяНазвание и аннотация: Перевод пока не подготовлен
Обработка статьи · этапы, ошибки и управление
Загрузка состояния…
Ошибки и ограничения
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.
Lee Seungmin, Kim Han-Joon, Kim Seoyeon, Jin Bora, Jeon HoYoung, Woo Kyung Ah, Shin Jung Hwan, Lee Chansub, Sun Choonghyun, Im Hogune, An Hongyul, Koh Young Il, Choi Su-Yeon, Jeon Beomseok
Аннотация
BACKGROUND: Clonal hematopoiesis of indeterminate potential (CHIP) is associated with cardiovascular diseases and other disorders, possibly via inflammation. Recent research suggests a connection of CHIP with neurodegenerative disorders.
OBJECTIVE: We aimed to investigate the association between multiple system atrophy (MSA) and CHIP.
METHODS: We included 100 patients with MSA and 4457 controls. Targeted sequencing of peripheral blood DNA samples was performed, focusing on a panel of 25 genes commonly.
LINKED TO CHIP: The prevalence of CHIP in patients with MSA was assessed against controls at variant allele frequency (VAF) thresholds of 1.5 % and 2.0 %.
RESULTS: DNMT3A mutation rates were significantly higher in patients with MSA, with a VAF of 1.5 %, which remained significant after adjusting for age and sex (adjusted odds ratio, 1.848; 95 % CI, 1.024-3.335; p = 0.0416).
CONCLUSION: Our results suggest an association between DNMT3A mutations and MSA.
OBJECTIVE: We aimed to investigate the association between multiple system atrophy (MSA) and CHIP.
METHODS: We included 100 patients with MSA and 4457 controls. Targeted sequencing of peripheral blood DNA samples was performed, focusing on a panel of 25 genes commonly.
LINKED TO CHIP: The prevalence of CHIP in patients with MSA was assessed against controls at variant allele frequency (VAF) thresholds of 1.5 % and 2.0 %.
RESULTS: DNMT3A mutation rates were significantly higher in patients with MSA, with a VAF of 1.5 %, which remained significant after adjusting for age and sex (adjusted odds ratio, 1.848; 95 % CI, 1.024-3.335; p = 0.0416).
CONCLUSION: Our results suggest an association between DNMT3A mutations and MSA.