Literature DB >> 27650968

SORL1 variants across Alzheimer's disease European American cohorts.

Maria Victoria Fernández1,2, Kathleen Black1,2, David Carrell1, Ben Saef1,2, John Budde1,2, Yuetiva Deming1,2, Bill Howells1,2, Jorge L Del-Aguila1,2, Shengmei Ma1,2, Catherine Bi1,2, Joanne Norton1,2, Rachel Chasse1,2, John Morris2,3,4, Alison Goate5, Carlos Cruchaga1,2.   

Abstract

The accumulation of the toxic Aβ peptide in Alzheimer's disease (AD) largely relies upon an efficient recycling of amyloid precursor protein (APP). Recent genetic association studies have described rare variants in SORL1 with putative pathogenic consequences in the recycling of APP. In this work, we examine the presence of rare coding variants in SORL1 in three different European American cohorts: early-onset, late-onset AD (LOAD) and familial LOAD.

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Year:  2016        PMID： 27650968      PMCID： PMC5117924          DOI： 10.1038/ejhg.2016.122

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN： 1018-4813            Impact factor:   4.246


  18 in total

Review 1.  Alzheimer's disease: rare variants with large effect sizes.

Authors:  Jorge L Del-Aguila; Daniel C Koboldt; Kathleen Black; Rachel Chasse; Joanne Norton; Richard K Wilson; Carlos Cruchaga
Journal:  Curr Opin Genet Dev       Date:  2015-08-22       Impact factor: 5.578

2.  The neuronal sortilin-related receptor SORL1 is genetically associated with Alzheimer disease.

Authors:  Ekaterina Rogaeva; Yan Meng; Joseph H Lee; Yongjun Gu; Toshitaka Kawarai; Fanggeng Zou; Taiichi Katayama; Clinton T Baldwin; Rong Cheng; Hiroshi Hasegawa; Fusheng Chen; Nobuto Shibata; Kathryn L Lunetta; Raphaelle Pardossi-Piquard; Christopher Bohm; Yosuke Wakutani; L Adrienne Cupples; Karen T Cuenco; Robert C Green; Lorenzo Pinessi; Innocenzo Rainero; Sandro Sorbi; Amalia Bruni; Ranjan Duara; Robert P Friedland; Rivka Inzelberg; Wolfgang Hampe; Hideaki Bujo; You-Qiang Song; Olav M Andersen; Thomas E Willnow; Neill Graff-Radford; Ronald C Petersen; Dennis Dickson; Sandy D Der; Paul E Fraser; Gerold Schmitt-Ulms; Steven Younkin; Richard Mayeux; Lindsay A Farrer; Peter St George-Hyslop
Journal:  Nat Genet       Date:  2007-01-14       Impact factor: 38.330

3.  SORL1 haplotypes modulate risk of Alzheimer's disease in Chinese.

Authors:  E K Tan; J Lee; C P Chen; Y Y Teo; Y Zhao; W L Lee
Journal:  Neurobiol Aging       Date:  2007-12-11       Impact factor: 4.673

4.  Sorl1 as an Alzheimer's disease predisposition gene?

Authors:  Jennifer A Webster; Amanda J Myers; John V Pearson; David W Craig; Diane Hu-Lince; Keith D Coon; Victoria L Zismann; Thomas Beach; Doris Leung; Leslie Bryden; Rebecca F Halperin; Lauren Marlowe; Mona Kaleem; Matthew J Huentelman; Keta Joshipura; Douglas Walker; Christopher B Heward; Rivka Ravid; Joseph Rogers; Andreas Papassotiropoulos; John Hardy; Eric M Reiman; Dietrich A Stephan
Journal:  Neurodegener Dis       Date:  2007-11-01       Impact factor: 2.977

5.  Association between SORL1 and Alzheimer's disease in a genome-wide study.

Authors:  Yan Meng; Joseph H Lee; Rong Cheng; Peter St George-Hyslop; Richard Mayeux; Lindsay A Farrer
Journal:  Neuroreport       Date:  2007-11-19       Impact factor: 1.837

6.  GEE-based SNP set association test for continuous and discrete traits in family-based association studies.

Authors:  Xuefeng Wang; Seunggeun Lee; Xiaofeng Zhu; Susan Redline; Xihong Lin
Journal:  Genet Epidemiol       Date:  2013-10-25       Impact factor: 2.135

7.  Coding mutations in SORL1 and Alzheimer disease.

Authors:  Badri N Vardarajan; Yalun Zhang; Joseph H Lee; Rong Cheng; Christopher Bohm; Mahdi Ghani; Christiane Reitz; Dolly Reyes-Dumeyer; Yufeng Shen; Ekaterina Rogaeva; Peter St George-Hyslop; Richard Mayeux
Journal:  Ann Neurol       Date:  2015-02       Impact factor: 10.422

8.  Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease.

Authors:  Paul Hollingworth; Denise Harold; Rebecca Sims; Amy Gerrish; Jean-Charles Lambert; Minerva M Carrasquillo; Richard Abraham; Marian L Hamshere; Jaspreet Singh Pahwa; Valentina Moskvina; Kimberley Dowzell; Nicola Jones; Alexandra Stretton; Charlene Thomas; Alex Richards; Dobril Ivanov; Caroline Widdowson; Jade Chapman; Simon Lovestone; John Powell; Petroula Proitsi; Michelle K Lupton; Carol Brayne; David C Rubinsztein; Michael Gill; Brian Lawlor; Aoibhinn Lynch; Kristelle S Brown; Peter A Passmore; David Craig; Bernadette McGuinness; Stephen Todd; Clive Holmes; David Mann; A David Smith; Helen Beaumont; Donald Warden; Gordon Wilcock; Seth Love; Patrick G Kehoe; Nigel M Hooper; Emma R L C Vardy; John Hardy; Simon Mead; Nick C Fox; Martin Rossor; John Collinge; Wolfgang Maier; Frank Jessen; Eckart Rüther; Britta Schürmann; Reiner Heun; Heike Kölsch; Hendrik van den Bussche; Isabella Heuser; Johannes Kornhuber; Jens Wiltfang; Martin Dichgans; Lutz Frölich; Harald Hampel; John Gallacher; Michael Hüll; Dan Rujescu; Ina Giegling; Alison M Goate; John S K Kauwe; Carlos Cruchaga; Petra Nowotny; John C Morris; Kevin Mayo; Kristel Sleegers; Karolien Bettens; Sebastiaan Engelborghs; Peter P De Deyn; Christine Van Broeckhoven; Gill Livingston; Nicholas J Bass; Hugh Gurling; Andrew McQuillin; Rhian Gwilliam; Panagiotis Deloukas; Ammar Al-Chalabi; Christopher E Shaw; Magda Tsolaki; Andrew B Singleton; Rita Guerreiro; Thomas W Mühleisen; Markus M Nöthen; Susanne Moebus; Karl-Heinz Jöckel; Norman Klopp; H-Erich Wichmann; V Shane Pankratz; Sigrid B Sando; Jan O Aasly; Maria Barcikowska; Zbigniew K Wszolek; Dennis W Dickson; Neill R Graff-Radford; Ronald C Petersen; Cornelia M van Duijn; Monique M B Breteler; M Arfan Ikram; Anita L DeStefano; Annette L Fitzpatrick; Oscar Lopez; Lenore J Launer; Sudha Seshadri; Claudine Berr; Dominique Campion; Jacques Epelbaum; Jean-François Dartigues; Christophe Tzourio; Annick Alpérovitch; Mark Lathrop; Thomas M Feulner; Patricia Friedrich; Caterina Riehle; Michael Krawczak; Stefan Schreiber; Manuel Mayhaus; S Nicolhaus; Stefan Wagenpfeil; Stacy Steinberg; Hreinn Stefansson; Kari Stefansson; Jon Snaedal; Sigurbjörn Björnsson; Palmi V Jonsson; Vincent Chouraki; Benjamin Genier-Boley; Mikko Hiltunen; Hilkka Soininen; Onofre Combarros; Diana Zelenika; Marc Delepine; Maria J Bullido; Florence Pasquier; Ignacio Mateo; Ana Frank-Garcia; Elisa Porcellini; Olivier Hanon; Eliecer Coto; Victoria Alvarez; Paolo Bosco; Gabriele Siciliano; Michelangelo Mancuso; Francesco Panza; Vincenzo Solfrizzi; Benedetta Nacmias; Sandro Sorbi; Paola Bossù; Paola Piccardi; Beatrice Arosio; Giorgio Annoni; Davide Seripa; Alberto Pilotto; Elio Scarpini; Daniela Galimberti; Alexis Brice; Didier Hannequin; Federico Licastro; Lesley Jones; Peter A Holmans; Thorlakur Jonsson; Matthias Riemenschneider; Kevin Morgan; Steven G Younkin; Michael J Owen; Michael O'Donovan; Philippe Amouyel; Julie Williams
Journal:  Nat Genet       Date:  2011-04-03       Impact factor: 38.330

9.  Rare variants in APP, PSEN1 and PSEN2 increase risk for AD in late-onset Alzheimer's disease families.

Authors:  Carlos Cruchaga; Gabe Haller; Sumitra Chakraverty; Kevin Mayo; Francesco L M Vallania; Robi D Mitra; Kelley Faber; Jennifer Williamson; Tom Bird; Ramon Diaz-Arrastia; Tatiana M Foroud; Bradley F Boeve; Neill R Graff-Radford; Pamela St Jean; Michael Lawson; Margaret G Ehm; Richard Mayeux; Alison M Goate
Journal:  PLoS One       Date:  2012-02-01       Impact factor: 3.240

10.  Genetic correlates of brain aging on MRI and cognitive test measures: a genome-wide association and linkage analysis in the Framingham Study.

Authors:  Sudha Seshadri; Anita L DeStefano; Rhoda Au; Joseph M Massaro; Alexa S Beiser; Margaret Kelly-Hayes; Carlos S Kase; Ralph B D'Agostino; Charles Decarli; Larry D Atwood; Philip A Wolf
Journal:  BMC Med Genet       Date:  2007-09-19       Impact factor: 2.103
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  7 in total

1.  Polygenic risk score of sporadic late-onset Alzheimer's disease reveals a shared architecture with the familial and early-onset forms.

Authors:  Carlos Cruchaga; Jorge L Del-Aguila; Benjamin Saef; Kathleen Black; Maria Victoria Fernandez; John Budde; Laura Ibanez; Yuetiva Deming; Manav Kapoor; Giuseppe Tosto; Richard P Mayeux; David M Holtzman; Anne M Fagan; John C Morris; Randall J Bateman; Alison M Goate; Oscar Harari
Journal:  Alzheimers Dement       Date:  2017-09-21       Impact factor: 21.566

2.  Examination of the Effect of Rare Variants in TREM2, ABI3, and PLCG2 in LOAD Through Multiple Phenotypes.

Authors:  Claudia Olive; Laura Ibanez; Fabiana H Geraldo Farias; Fengxian Wang; John P Budde; Joanne B Norton; Jen Gentsch; John C Morris; Zeran Li; Umber Dube; Jorge Del-Aguila; Kristy Bergmann; Joseph Bradley; Bruno A Benitez; Oscar Harari; Anne Fagan; Beau Ances; Carlos Cruchaga; Maria Victoria Fernandez
Journal:  J Alzheimers Dis       Date:  2020       Impact factor: 4.472

3.  Analysis of neurodegenerative Mendelian genes in clinically diagnosed Alzheimer Disease.

Authors:  Maria Victoria Fernández; Jong Hun Kim; John P Budde; Kathleen Black; Alexandra Medvedeva; Ben Saef; Yuetiva Deming; Jorge Del-Aguila; Laura Ibañez; Umber Dube; Oscar Harari; Joanne Norton; Rachel Chasse; John C Morris; Alison Goate; Carlos Cruchaga
Journal:  PLoS Genet       Date:  2017-11-01       Impact factor: 5.917

4.  Genetic variants associated with Alzheimer's disease confer different cerebral cortex cell-type population structure.

Authors:  Zeran Li; Jorge L Del-Aguila; Umber Dube; John Budde; Rita Martinez; Kathleen Black; Qingli Xiao; Nigel J Cairns; Joseph D Dougherty; Jin-Moo Lee; John C Morris; Randall J Bateman; Celeste M Karch; Carlos Cruchaga; Oscar Harari
Journal:  Genome Med       Date:  2018-06-08       Impact factor: 11.117

5.  TREM2 brain transcript-specific studies in AD and TREM2 mutation carriers.

Authors:  Jorge L Del-Aguila; Bruno A Benitez; Zeran Li; Umber Dube; Kathie A Mihindukulasuriya; John P Budde; Fabiana H G Farias; Maria Victoria Fernández; Laura Ibanez; Shan Jiang; Richard J Perrin; Nigel J Cairns; John C Morris; Oscar Harari; Carlos Cruchaga
Journal:  Mol Neurodegener       Date:  2019-05-08       Impact factor: 14.195

6.  Association of Rare Coding Mutations With Alzheimer Disease and Other Dementias Among Adults of European Ancestry.

Authors:  Devanshi Patel; Jesse Mez; Badri N Vardarajan; Lyndsay Staley; Jaeyoon Chung; Xiaoling Zhang; John J Farrell; Michael J Rynkiewicz; Lisa A Cannon-Albright; Craig C Teerlink; Jeffery Stevens; Christopher Corcoran; Josue D Gonzalez Murcia; Oscar L Lopez; Richard Mayeux; Jonathan L Haines; Margaret A Pericak-Vance; Gerard Schellenberg; John S K Kauwe; Kathryn L Lunetta; Lindsay A Farrer
Journal:  JAMA Netw Open       Date:  2019-03-01

7.  Lack of evidence supporting a role for DPP6 sequence variants in Alzheimer's disease in the European American population.

Authors:  Laxmi Kirola; John P Budde; Fengxian Wang; Joanne Norton; John C Morris; Carlos Cruchaga; Maria Victoria Fernández
Journal:  Acta Neuropathol       Date:  2021-02-16       Impact factor: 17.088
  7 in total

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