m+Medelevator.RU
← Поиск публикаций
Research square · 2025

GWAS meta-analysis of CSF Alzheimer's disease biomarkers 18,948 individuals reveal novel loci and genes regulating lipid metabolism, brain volume and autophagy.

СтатьяПрепринтНазвание и аннотация: Перевод пока не подготовлен
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.

Cruchaga Carlos, Timsina Jigyasha, Jiang Chenyang, McCartney Daniel, Tao Feifei, Dalmasso Maria Carolina, Najar Jenna, Anastasi Federica, Ohlei Olena, Puerta Raquel, Bradley Joseph, Western Daniel, Ali Muhammad, Wang Ciyang, Yang Chengran, Wu Ying, Liu Menghan, Budde John, Williams Julie, Mahoney Rebecca, Castillo Atahualpa, Hohman Timothy, Dumitrescu Logan, Wang Ting-Chen, Tesi Niccoló, Kern Silke, Waern Margda, Skoog Ingmer, van Harten Argonde, van der Flier Wiesje, Sánchez-Juan Pascual, Rodriguez-Rodriguez Eloy, Kleineidam Luca, Peters Oliver, Schneider Anja, Küçükali Fahri, Bellenguez Céline, Grenier-Boley Benjamin, Heikkinen Sami, de Rojas Itziar, Rujescu Dan, Scherbaum Norbert, Hausner Lucrezia, Duzel Emrah, Grimmer Timo, Wiltfang Jens, Vandenberghe Rik, Engelborghs Sebastiaan, Heilmann-Heimbach Stefanie, Schmid Matthias, Tegos Thomas, Scarmeas Nikolaos, Dols-Icardo Oriol, Moreno Fermin, Pérez-Tur Jordi, Bullido María J, Sanchez-Valle Raquel, Álvarez Victoria, Garcia-Gonzalez Pablo, Mir Pablo, Real Luis, Piñol-Ripoll Gerard, García-Alberca Jose María, Seelaar Harro, Ramakers Inez, Papma Janne, Hulsman Marc, Laske Christoph, Teipel Stefan, Priller Josef, Perneczky Robert, Buerger Katharina, Nöthen Markus, Lewczuk Piotr, Kornhuber Johannes, Maier Wolfgang, Hampel Harald, Giegling Ina, Goldhardt Oliver, Diehl-Schmid Janine, Andrade Victor, Heneka Michael, Froelich Lutz, Vogelgsang Jonathan, Graff Caroline, Thonberg Håkan, Ullgren Abbe, Papenberg Goran, Boland Anne, Deleuze Jean-François, Wagner Michael, Jessen Frank, Holstege Henne, van Duijn Cornelia, Lebouvier Thibaud, Hanon Olivier, Leinonen Ville, Soininen Hilkka, Herukka Sanna-Kaisa, Giedraitis Vilmantas, Löwenmark Malin, Kilander Lena, Genius Patricia, Rodríguez Blanca, Luckett Emma, Navarro Arcadi, Cano Amanda, Marquié Marta, Blennow Kaj, Zetterberg Henrik, Lleo Alberto, Boada Mercè, Laza Agustin Ruiz, Lee Virginia, Deerlin Vivianna Van, Deming Yuetiva, Johnson Sterling, Engelman Corinne, Pastor Pau, Alvarez Ignacio, Peskind Elaine, Heslegrave Amanda, Saykin Andrew, Nho Kwangsik, Schindler Suzanne, Morris John, Holtzman David, McDade Eric, Renton Alan, Goate Alison, Ibanez Laura, Riemenschneider Matthias, Albert Marilyn, Laws Simon, Porter Tenielle, O'Brien Eleanor, Shaw Leslie, Tijms Betty, Ingelsson Martin, Visser Pieter Jelle, Hiltunen Mikko, Sleegers Kristel, Ritchie Craig, Sims Rebecca, Lambert Jean-Charles, Vilor-Tejedor Natàlia, Fernández Maria, Li Qingqin, Nagle Michael, Marioni Riccardo, Ramirez Alfredo, Bertram Lars, van der Lee Sven

Аннотация

Cerebrospinal fluid (CSF) amyloid beta (Aβ42), total tau (t-tau), and phosphorylated tau (p-tau181) are well accepted markers of Alzheimer's disease. We performed a GWAS meta-analysis including 18,948 individuals of European and 416 non-European ancestry. We identified 12 genome-wide significant loci across all three biomarkers, eight of them novel. We replicated the association of CSF biomarkers with APOE , CR1 , GMNC/CCDC50 and C16orf95/MAP1LC3B . Novel loci included BIN1 for Aβ42 and GNA12, MS4A6A, SLCO1A2 with both t-tau and p-tau181, as well as additional loci on chr. 8, near ANGPT1 and chr. 9 near SMARCA2 . We also demonstrated that these variants were not only associated with CSF level of the three biomarkers but also showed significant association with AD risk, disease progression and/or brain amyloidosis. The associated genes are implicated in lipid metabolism independent APOE , as well as autophagy and brain volume regulation driven by t-tau and p-tau181 dysregulation.

ИП Урсолов Владлен Сергеевич

ИНН 500118482352 · ОГРНИП 314500117700049

Реквизиты и контакты