源自欧洲的阿尔茨海默病多基因风险评分在多祖先人群中的可转移性。
Transferability of European-derived Alzheimer's disease polygenic risk scores across multiancestry populations.
作者信息
Nicolas Aude, Sherva Richard, Grenier-Boley Benjamin, Kim Yoontae, Kikuchi Masataka, Timsina Jigyasha, de Rojas Itziar, Dalmasso María Carolina, Zhou Xiaopu, Le Guen Yann, Arboleda-Bustos Carlos E, Camargos Bicalho Maria Aparecida, Guerchet Maëlenn, van der Lee Sven, Goss Monica, Castillo Atahualpa, Bellenguez Céline, Küçükali Fahri, Satizabal Claudia L, Fongang Bernard, Yang Qiong, Peters Oliver, Schneider Anja, Dichgans Martin, Rujescu Dan, Scherbaum Norbert, Deckert Jürgen, Riedel-Heller Steffi, Hausner Lucrezia, Molina-Porcel Laura, Düzel Emrah, Grimmer Timo, Wiltfang Jens, Heilmann-Heimbach Stefanie, Moebus Susanne, Tegos Thomas, Scarmeas Nikolaos, Dols-Icardo Oriol, Moreno Fermin, Pérez-Tur Jordi, Bullido María J, Pastor Pau, Sánchez-Valle Raquel, Álvarez Victoria, Cao Han, Ip Nancy Y, Fu Amy K Y, Ip Fanny C F, Olivar Natividad, Muchnik Carolina, Cuesta Carolina, Campanelli Lorenzo, Solis Patricia, Politis Daniel Gustavo, Kochen Silvia, Brusco Luis Ignacio, Boada Mercè, García-González Pablo, Puerta Raquel, Mir Pablo, Real Luis M, Piñol-Ripoll Gerard, García-Alberca Jose María, Royo Jose Luís, Rodriguez-Rodriguez Eloy, Soininen Hilkka, Heikkinen Sami, de Mendonça Alexandre, Mehrabian Shima, Traykov Latchezar, Hort Jakub, Vyhnalek Martin, Rasmussen Katrine Laura, Thomassen Jesper Qvist, Pijnenburg Yolande A L, Holstege Henne, van Swieten John C, Seelaar Harro, Claassen Jurgen A H R, Jansen Willemijn J, Ramakers Inez, Verhey Frans, van der Lugt Aad, Scheltens Philip, Ortega-Rojas Jenny, Concha Mera Ana Gabriela, Mahecha Maria F, Pardo Rodrigo, Arboleda Gonzalo, Bahrami Shahram, Fominykh Vera, Selbæk Geir, Graff Caroline, Papenberg Goran, Giedraitis Vilmantas, Boland Anne, Deleuze Jean-François, de Marco Luiz Armando, de Moraes Edgar Nunes, de Mattos Viana Bernardo, Túlio Gualberto Cintra Marco, Juarez-Cedillo Teresa, Griswold Anthony J, Forund Tatiana, Haines Jonathan, Farrer Lindsay, DeStefano Anita, Wijsman Ellen, Mayeux Richard, Pericak-Vance Margaret, Kunkle Brian, Goate Alison, Schellenberg Gerard D, Vardarajan Badri, Wang Li-San, Leung Yuk Yee, Dalgard Clifton L, Nicolas Gael, Wallon David, Dufouil Carole, Pasquier Florence, Hanon Olivier, Debette Stéphanie, Grünblatt Edna, Popp Julius, Angel Bárbara, Gloger Sergio, Chacon Maria Victoria, Aranguiz Rafael, Orellana Paulina, Slachevsky Andrea, Gonzalez-Billault Christian, Albala Cecilia, Fuentes Patricio, Sachdev Perminder, Mather Karen A, Hauger Richard L, Merritt Victoria, Panizzon Matthew, Zhang Rui, Gaziano J Michael, Ghidoni Roberta, Galimberti Daniela, Arosio Beatrice, Mecocci Patrizia, Solfrizzi Vincenzo, Parnetti Lucilla, Squassina Alessio, Tremolizzo Lucio, Borroni Barbara, Nacmias Benedetta, Caffarra Paolo, Seripa Davide, Rainero Innocenzo, Daniele Antonio, Piras Fabrizio, Leonard Hampton L, Yokoyama Jenifer S, Nalls Mike A, Miyashita Akinori, Hara Norikazu, Ozaki Kouichi, Niida Shumpei, Williams Julie, Masullo Carlo, Amouyel Philippe, Preux Pierre-Marie, Mbelesso Pascal, Bandzouzi Bébène, Saykin Andy, Jessen Frank, Kehoe Patrick G, Van Duijn Cornelia, Ben Salem Nesrine, Frikke-Schmidt Ruth, Cherni Lotfi, Greicius Michael D, Tsolaki Magda, Sánchez-Juan Pascual, Romano Silva Marco Aurélio, Porter Tenielle, Laws Simon M, Sleegers Kristel, Ingelsson Martin, Dartigues Jean-François, Seshadri Sudha, Rossi Giacomina, Morelli Laura, Hiltunen Mikko, Sims Rebecca, van der Flier Wiesje, Andreassen Ole A, Arboleda Humberto, Cruchaga Carlos, Escott-Price Valentina, Ruiz Agustín, Lee Kun Ho, Ikeuchi Takeshi, Ramirez Alfredo, Gim Jungsoo, Logue Mark, Lambert Jean-Charles
机构信息
U1167-RID-AGE facteurs de risque et déterminants moléculaires des maladies liées au vieillissement, Université Lille, Inserm, CHU Lille, Institut Pasteur de Lille, Lille, France.
Institut du Cerveau - Paris Brain Institute - ICM, Sorbonne Université, CNRS, APHP Hôpital de La Pitié Salpêtrière, Inserm, Paris, France.
出版信息
Nat Genet. 2025 Jun 18. doi: 10.1038/s41588-025-02227-w.
A polygenic score (PGS) for Alzheimer's disease (AD) was derived recently from data on genome-wide significant loci in European ancestry populations. We applied this PGS to populations in 17 European countries and observed a consistent association with the AD risk, age at onset and cerebrospinal fluid levels of AD biomarkers, independently of apolipoprotein E locus (APOE). This PGS was also associated with the AD risk in many other populations of diverse ancestries. A cross-ancestry polygenic risk score improved the association with the AD risk in most of the multiancestry populations tested when the APOE region was included. Finally, we found that the PGS/polygenic risk score captured AD-specific information because the association weakened as the diagnosis was broadened. In conclusion, a simple PGS captures the AD-specific genetic information that is common to populations of different ancestries, although studies of more diverse populations are still needed to better characterize the genetics of AD.
阿尔茨海默病（AD）的多基因评分（PGS）最近从欧洲血统人群全基因组显著位点的数据中得出。我们将此PGS应用于17个欧洲国家的人群，观察到其与AD风险、发病年龄以及AD生物标志物的脑脊液水平存在一致关联，且独立于载脂蛋白E基因座（APOE）。该PGS在许多其他不同血统的人群中也与AD风险相关。当纳入APOE区域时，跨血统多基因风险评分在大多数测试的多血统人群中改善了与AD风险的关联。最后，我们发现PGS/多基因风险评分捕捉到了AD特异性信息，因为随着诊断范围扩大，这种关联会减弱。总之，一个简单的PGS捕捉到了不同血统人群共有的AD特异性遗传信息，尽管仍需要对更多样化的人群进行研究，以更好地描述AD的遗传学特征。
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