Медицинская библиотека · medRxiv : the preprint server for health sciences · 2025
APOE stratified genome-wide association studies provide novel insights into the genetic etiology of Alzheimers's disease.
Thomassen Jesper Qvist, Hampton Leonard, Ulms Brittany, Grenier-Boley Benjamin, Heikkinen Sami, Garcia Pablo, Castillo-Morales Atahualapa, Kikuchi Masataka, Gim Jungsoo, Cao Han, Küçükali Fahri, Amin Najaf, Yoon Dabin, de Rojas Itziar, Jerez Pilar Alvarez, Alvarez Victoria, Arosio Beatrice, Bellenguez Celine, Bergh Sverre, Billingsley Kimberly, Blauwendraat Cornelis, Boada Merce, Borroni Barbara, Bossù Paola, Bullido María J, Daniele Antonio, Carracedo Ángel, de Mendonça Alexandre, Cookson Mark, Deckert Jürgen, Dichgans Martin, Djurovic Srdjan, Dols-Icardo Oriol, Dufouil Carole, Düzel Emrah, Escott-Price Valentina, Fladby Tormod, Fratiglioni Laura, Fu Amy K Y, Galimberti Daniela, García-Alberca Jose Maria, Giedraitis Vilmantas, Garcia-Ribas Guillermo, Graff Caroline, Grimmer Timo, Grünblatt Edna, Hanon OIivier, Hausner Lucrezia, Heilmann-Hemibach Stefanie, Hort Jakub, Jessen Frank, Jensen Kendall, Jonson Caroline, Kim Yoontae, Kuznetsov Nicole, Leinonen Ville, Lipponen Anssi, Luo Jiao, Makarious Mary, Martiskainen Henna, Masullo Carlo, Mecocci Patrizia, Mehrabian Shima, Mir Pablo, Miyashita Akinori, Moebus Susanne, Mok Kin Y, Porcel Laura Molina, Moreno Fermin, Nacmias Benedetta, Parnetti Lucilla, Pastor Pau, Pérez-Tur Jordi, Peters Oliver, Pijnenburg Yolande A L, Piñol-Ripoll Gerard, Popp Julius, Rainero Innocenzo, Real Luis M, Riedel-Heller Steffi, Rodriguez-Rodriguez Eloy, Rongve Arvid, Rossi Giacomina, Royo Jose Luis, Rujescu Dan, Saltvedt Ingvild, Sáez María Eugenia, Sánchez-Valle Raquel, Sanchez-Garcia Florentino, Sandau Nicolai, Scarmeas Nikolaos, Scheffler Katja, Scherbaum Norbert, Schneider Anja, Selbæk Geir, Seripa Davide, Solfrizzi Vincenzo, Spallazzi Marco, Squassina Alessio, Stordal Eystein, Tesi Niccoló, Tremolizzo Lucio, Tripathi Kumar P, van der Flier Wiesje M, Williams Julie, Wiltfang Jens, Aarsland Dag, Singleton Andrew B, Amouyel Philippe, Debette Stéphanie, Nicolas Gael, van der Lee Sven, Holstege Henne, Fernandez Maria Victoria, Kehoe Patrick Gavin, Sleegers Kristel, Ingelsson Martin, Ghidoni Roberta, Andreassen Ole A, Holmans Peter A, Sánchez-Juan Pascual, Sims Rebecca, Ip Nancy Y, Lee Kun Ho, Ikeuchi Takeshi, Ramirez Alfredo, Ruiz Agustin, Hiltunen Mikko, Lambert Jean-Charles, van Duijn Cornelia, Nalls Mike, Frikke-Schmidt Ruth
СтатьяПрепринтПеревод в очереди
Аннотация
Among the more than 90 identified genetic risk loci for late-onset Alzheimer's disease (AD) and related dementias, the apolipoprotein E gene (APOE) ε2/ε3/ε4 polymorphism remains the longstanding benchmark for genetic disease risk with a consistently large effect across studies1-10. Despite this massive signal, the exact mechanisms for how ε4 increases and for how ε2 decreases dementia risk is not well-understood. Importantly, recent trials of anti-amyloid therapies suggest less efficacy and higher risks of severe side effects in s4 carriers11-13, hampering the treatment of those with the highest unmet need. To improve our understanding of the genetic architecture of AD in the context of its main genetic driver, we performed genome-wide association studies (GWASs) stratified by ε4 and ε2 carrier status. Such insights may help to understand and overcome side effects, to impact clinical trial enrolment strategies, and to create the scientific basis for targeted mechanism-driven therapies in neurodegenerative diseases.
Для цитирования: Thomassen Jesper Qvist, Hampton Leonard, Ulms Brittany, Grenier-Boley Benjamin, Heikkinen Sami, Garcia Pablo, Castillo-Morales Atahualapa, Kikuchi Masataka, Gim Jungsoo, Cao Han, Küçükali Fahri, Amin Najaf, Yoon Dabin, de Rojas Itziar, Jerez Pilar Alvarez, Alvarez Victoria, Arosio Beatrice, Bellenguez Celine, Bergh Sverre, Billingsley Kimberly, Blauwendraat Cornelis, Boada Merce, Borroni Barbara, Bossù Paola, Bullido María J, Daniele Antonio, Carracedo Ángel, de Mendonça Alexandre, Cookson Mark, Deckert Jürgen, Dichgans Martin, Djurovic Srdjan, Dols-Icardo Oriol, Dufouil Carole, Düzel Emrah, Escott-Price Valentina, Fladby Tormod, Fratiglioni Laura, Fu Amy K Y, Galimberti Daniela, García-Alberca Jose Maria, Giedraitis Vilmantas, Garcia-Ribas Guillermo, Graff Caroline, Grimmer Timo, Grünblatt Edna, Hanon OIivier, Hausner Lucrezia, Heilmann-Hemibach Stefanie, Hort Jakub, Jessen Frank, Jensen Kendall, Jonson Caroline, Kim Yoontae, Kuznetsov Nicole, Leinonen Ville, Lipponen Anssi, Luo Jiao, Makarious Mary, Martiskainen Henna, Masullo Carlo, Mecocci Patrizia, Mehrabian Shima, Mir Pablo, Miyashita Akinori, Moebus Susanne, Mok Kin Y, Porcel Laura Molina, Moreno Fermin, Nacmias Benedetta, Parnetti Lucilla, Pastor Pau, Pérez-Tur Jordi, Peters Oliver, Pijnenburg Yolande A L, Piñol-Ripoll Gerard, Popp Julius, Rainero Innocenzo, Real Luis M, Riedel-Heller Steffi, Rodriguez-Rodriguez Eloy, Rongve Arvid, Rossi Giacomina, Royo Jose Luis, Rujescu Dan, Saltvedt Ingvild, Sáez María Eugenia, Sánchez-Valle Raquel, Sanchez-Garcia Florentino, Sandau Nicolai, Scarmeas Nikolaos, Scheffler Katja, Scherbaum Norbert, Schneider Anja, Selbæk Geir, Seripa Davide, Solfrizzi Vincenzo, Spallazzi Marco, Squassina Alessio, Stordal Eystein, Tesi Niccoló, Tremolizzo Lucio, Tripathi Kumar P, van der Flier Wiesje M, Williams Julie, Wiltfang Jens, Aarsland Dag, Singleton Andrew B, Amouyel Philippe, Debette Stéphanie, Nicolas Gael, van der Lee Sven, Holstege Henne, Fernandez Maria Victoria, Kehoe Patrick Gavin, Sleegers Kristel, Ingelsson Martin, Ghidoni Roberta, Andreassen Ole A, Holmans Peter A, Sánchez-Juan Pascual, Sims Rebecca, Ip Nancy Y, Lee Kun Ho, Ikeuchi Takeshi, Ramirez Alfredo, Ruiz Agustin, Hiltunen Mikko, Lambert Jean-Charles, van Duijn Cornelia, Nalls Mike, Frikke-Schmidt Ruth. APOE stratified genome-wide association studies provide novel insights into the genetic etiology of Alzheimers's disease.. medRxiv : the preprint server for health sciences. 2025. DOI: 10.1101/2025.05.07.25327065.
Подготовка и перевод публикацииОбработка 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.
Тип публикации указан по данным источника. Уровень доказательности автоматически не присваивается.
MedElevator
Войти в исследования