大型研究揭示阿爾茨海默氏癥相關(guān)基因變異
日前，來自歐洲與美國等多處機(jī)構(gòu)的科學(xué)家在《自然—遺傳學(xué)》上報(bào)告稱，基于一項(xiàng)超大型研究，他們找到了阿爾茨海默氏癥（俗稱老年癡呆癥）的多個(gè)遺傳變異。
在這項(xiàng)大范圍關(guān)聯(lián)分析中，科學(xué)家對 17008 名阿爾茨海默氏癥患者進(jìn)行全基因組關(guān)聯(lián)研究，并選取 37154 名健康個(gè)體作為對照組，之后再對另外 8572 名患者進(jìn)行了第二階段研究，選取 11312 名健康個(gè)體作為對照組。
研究結(jié)果顯示，除了之前已發(fā)現(xiàn)的 APOE 基因組的關(guān)聯(lián)外，他們發(fā)現(xiàn)了 19 個(gè)對晚發(fā)型老年癡呆癥具有重要影響的基因組區(qū)域，其中 11 個(gè)屬于易感性基因座。
這項(xiàng)發(fā)現(xiàn)印證了之前老年癡呆癥病理學(xué)涉及到的幾個(gè)途徑，包括免疫反應(yīng)、炎癥、細(xì)胞遷移和類脂運(yùn)疏通路。此外，研究人員還提出了一些可能對患病風(fēng)險(xiǎn)有影響的其他基因和通路。
原文檢索：
Jean-Charles Lambert, Carla A Ibrahim-Verbaas, Denise Harold, Adam C Naj, Rebecca Sims, Céline Bellenguez, Gyungah Jun, Anita L DeStefano, Joshua C Bis, Gary W Beecham, Benjamin Grenier-Boley, Giancarlo Russo, Tricia A Thornton-Wells, Nicola Jones, Albert V Smith, Vincent Chouraki, Charlene Thomas, M Arfan Ikram, Diana Zelenika, Badri N Vardarajan, Yoichiro Kamatani, Chiao-Feng Lin, Amy Gerrish, Helena Schmidt, Brian Kunkle, Melanie L Dunstan, Agustin Ruiz, Marie-Thérèse Bihoreau, Seung-Hoan Choi, Christiane Reitz, Florence Pasquier, Paul Hollingworth, Alfredo Ramirez, Olivier Hanon, Annette L Fitzpatrick, Joseph D Buxbaum, Dominique Campion, Paul K Crane, Clinton Baldwin, Tim Becker, Vilmundur Gudnason, Carlos Cruchaga, David Craig, Najaf Amin, Claudine Berr, Oscar L Lopez, Philip L De Jager, Vincent Deramecourt, Janet A Johnston, Denis Evans, Simon Lovestone, Luc Letenneur, Francisco J Morón, David C Rubinsztein, Gudny Eiriksdottir, Kristel Sleegers, Alison M Goate, Nathalie Fiévet, Matthew J Huentelman, Michael Gill, Kristelle Brown, M Ilyas Kamboh, Lina Keller, Pascale Barberger-Gateau, Bernadette McGuinness, Eric B Larson, Robert Green, Amanda J Myers, Carole Dufouil, Stephen Todd, David Wallon, Seth Love, Ekaterina Rogaeva, John Gallacher, Peter St George-Hyslop, Jordi Clarimon, Alberto Lleo, Anthony Bayer, Debby W Tsuang, Lei Yu, Magda Tsolaki, Paola Bossù， Gianfranco Spalletta, Petroula Proitsi, John Collinge, Sandro Sorbi, Florentino Sanchez-Garcia, Nick C Fox, John Hardy, Maria Candida Deniz Naranjo, Paolo Bosco, Robert Clarke, Carol Brayne, Daniela Galimberti, Michelangelo Mancuso, Fiona Matthews, European Alzheimer's Disease Initiative （EADI）， Genetic and Environmental Risk in Alzheimer's Disease （GERAD）， Alzheimer's Disease Genetic Consortium （ADGC）， Cohorts for Heart and Aging Research in Genomic Epidemiology （CHARGE）， Susanne Moebus, Patrizia Mecocci, Maria Del Zompo, Wolfgang Maier, Harald Hampel, Alberto Pilotto, Maria Bullido, Francesco Panza, Paolo Caffarra, Benedetta Nacmias, John R Gilbert, Manuel Mayhaus, Lars Lannfelt, Hakon Hakonarson, Sabrina Pichler, Minerva M Carrasquillo, Martin Ingelsson, Duane Beekly, Victoria Alvarez, Fanggeng Zou, Otto Valladares, Steven G Younkin, Eliecer Coto, Kara L Hamilton-Nelson, Wei Gu, Cristina Razquin, Pau Pastor, Ignacio Mateo, Michael J Owen, Kelley M Faber, Palmi V Jonsson, Onofre Combarros, Michael C O'Donovan, Laura B Cantwell, Hilkka Soininen, Deborah Blacker, Simon Mead, Thomas H Mosley Jr, David A Bennett, Tamara B Harris, Laura Fratiglioni, Clive Holmes, Renee F A G de Bruijn, Peter Passmore, Thomas J Montine, Karolien Bettens, Jerome I Rotter, Alexis Brice, Kevin Morgan, Tatiana M Foroud, Walter A Kukull, Didier Hannequin, John F Powell, Michael A Nalls, Karen Ritchie, Kathryn L Lunetta, John S K Kauwe, Eric Boerwinkle, Matthias Riemenschneider, Mercè Boada, Mikko Hiltunen, Eden R Martin, Reinhold Schmidt, Dan Rujescu, Li-San Wang, Jean-Fran?ois Dartigues, Richard Mayeux, Christophe Tzourio, Albert Hofman, Markus M N?then, Caroline Graff, Bruce M Psaty, Lesley Jones, Jonathan L Haines, Peter A Holmans, Mark Lathrop, Margaret A Pericak-Vance, Lenore J Launer, Lindsay A Farrer, Cornelia M van Duijn, Christine Van Broeckhoven, Valentina Moskvina, Sudha Seshadri, Julie Williams, Gerard D Schellenberg & Philippe Amouyel. Meta-**ysis of 74, 046 individuals identifies 11 new susceptibility loci for Alzheimer's disease. Nature Genetics, 27 October 2013; doi:10.1038/ng.2802
本站所注明來源為"愛愛醫(yī)"的文章，版權(quán)歸作者與本站共同所有，非經(jīng)授權(quán)不得轉(zhuǎn)載。
本站所有轉(zhuǎn)載文章系出于傳遞更多信息之目的，且明確注明來源和作者，不希望被轉(zhuǎn)載的媒體或個(gè)人可與我們
聯(lián)系zlzs@120.net，我們將立即進(jìn)行刪除處理
熱點(diǎn)圖文
-
邊緣型人格障礙：哪些藥物可以一用？
邊緣型人格障礙（BPD）是一種破壞性很強(qiáng)的精神障礙。證據(jù)顯示，精神科住院部...[詳細(xì)]
-
PANSS-6——一種簡潔有效的精神分裂癥嚴(yán)重度量表
PANSS-30、PANSS-14和PANSS-8 均不具有“可擴(kuò)展性”;...[詳細(xì)]
