Publications

@article{bellenguez_contribution_2017,

title = {Contribution to Alzheimer's disease risk of rare variants in TREM2, SORL1, and ABCA7 in 1779 cases and 1273 controls},

author = {Céline Bellenguez and Camille Charbonnier and Benjamin Grenier-Boley and Olivier Quenez and Kilan Le Guennec and Gaël Nicolas and Ganesh Chauhan and David Wallon and Stéphane Rousseau and Anne Claire Richard and Anne Boland and Guillaume Bourque and Hans Markus Munter and Robert Olaso and Vincent Meyer and Adeline Rollin-Sillaire and Florence Pasquier and Luc Letenneur and Richard Redon and Jean-François Dartigues and Christophe Tzourio and Thierry Frebourg and Mark Lathrop and Jean-François Deleuze and Didier Hannequin and Emmanuelle Genin and Philippe Amouyel and Stéphanie Debette and Jean-Charles Lambert and Dominique Campion and Didier Hannequin and Dominique Campion and David Wallon and Olivier Martinaud and Aline Zarea and Gaël Nicolas and Adeline Rollin-Sillaire and Stéphanie Bombois and Marie-Anne Mackowiak and Vincent Deramecourt and Florence Pasquier and Agnès Michon and Isabelle Le Ber and Bruno Dubois and Olivier Godefroy and Frédérique Etcharry-Bouyx and Valérie Chauviré and Ludivine Chamard and Eric Berger and Eloi Magnin and Jean-Francois Dartigues and Sophie Auriacombe and François Tison and Vincent de la Sayette and Dominique Castan and Elsa Dionet and Francois Sellal and Olivier Rouaud and Christel Thauvin and Olivier Moreaud and Mathilde Sauvée and Maïté Formaglio and Hélène Mollion and Isabelle Roullet-Solignac and Alain Vighetto and Bernard Croisile and Mira Didic and Olivier Félician and Lejla Koric and Mathieu Ceccaldi and Audrey Gabelle and Cecilia Marelli and Pierre Labauge and Thérèse Jonveaux and Martine Vercelletto and Claire Boutoleau-Bretonnière and Giovanni Castelnovo and Claire Paquet and Julien Dumurgier and Jacques Hugon and Foucauld De Boisgueheneuc and Serge Belliard and Serge Bakchine and Marie Sarazin and Marie-Odile Barrellon and Bernard Laurent and Frédéric Blanc and Jérémie Pariente and Snejana Jurici},

url = {https://www.sciencedirect.com/science/article/pii/S0197458017302324},

doi = {10.1016/j.neurobiolaging.2017.07.001},

issn = {0197-4580},

year  = {2017},

date = {2017-01-01},

urldate = {2021-05-18},

journal = {Neurobiology of Aging},

volume = {59},

pages = {220.e1--220.e9},

abstract = {We performed whole-exome and whole-genome sequencing in 927 late-onset Alzheimer disease (LOAD) cases, 852 early-onset AD (EOAD) cases, and 1273 controls from France. We assessed the evidence for gene-based association of rare variants with AD in 6 genes for which an association with such variants was previously claimed. When aggregating protein-truncating and missense-predicted damaging variants, we found exome-wide significant association between EOAD risk and rare variants in SORL1, TREM2, and ABCA7. No exome-wide significant signal was obtained in the LOAD sample, and significance of the order of 10−6 was observed in the whole AD group for TREM2. Our study confirms previous gene-level results for TREM2, SORL1, and ABCA7 and provides a clearer insight into the classes of rare variants involved. Despite different effect sizes and varying cumulative minor allele frequencies, the rare protein-truncating and missense-predicted damaging variants in TREM2, SORL1, and ABCA7 contribute similarly to the heritability of EOAD and explain between 1.1% and 1.5% of EOAD heritability each, compared with 9.12% for APOE ε4.},

keywords = {Alzheimer's disease},

pubstate = {published},

tppubtype = {article}

}