Title |
ABCA7 rare variants and Alzheimer disease risk
|
---|---|
Published in |
Neurology, April 2016
|
DOI | 10.1212/wnl.0000000000002627 |
Pubmed ID | |
Authors |
Kilan Le Guennec, Gaël Nicolas, Olivier Quenez, Camille Charbonnier, David Wallon, Céline Bellenguez, Benjamin Grenier-Boley, Stéphane Rousseau, Anne-Claire Richard, Anne Rovelet-Lecrux, Delphine Bacq, Jean-Guillaume Garnier, Robert Olaso, Anne Boland, Vincent Meyer, Jean-François Deleuze, Philippe Amouyel, Hans Markus Munter, Guillaume Bourque, Mark Lathrop, Thierry Frebourg, Richard Redon, Luc Letenneur, Jean-François Dartigues, Florence Pasquier, Adeline Rollin-Sillaire, Emmanuelle Génin, Jean-Charles Lambert, Didier Hannequin, Dominique Campion, Didier Hannequin, Dominique Campion, David Wallon, Olivier Martinaud, Gaël Nicolas, Adeline Rollin-Sillaire, Stéphanie Bombois, Marie-Anne Mackowiak, Vincent Deramecourt, Florence Pasquier, Agnès Michon, Isabelle Le Ber, Bruno Dubois, Charles Duyckaerts, Olivier Godefroy, Frédérique Etcharry-Bouyx, Valérie Chauviré, Ludivine Chamard, Eric Berger, Eloi Magnin, Jean-Francois Dartigues, Sophie Auriacombe, François Tison, Cyril Goizet, Vincent de la Sayette, Fausto Viader, Dominique Castan, Elsa Dionet, Francois Sellal, Olivier Rouaud, Christel Thauvin, Olivier Moreaud, Mathilde Sauvée, Maïté Formaglio, Hélène Mollion, Isabelle Roullet-Solignac, Alain Vighetto, Bernard Croisile, Mira Didic, Olivier Félician, Lejla Koric, Mathieu Ceccaldi, Audrey Gabelle, Cecilia Marelli, Jacques Touchon, Pierre Labauge, Thérèse Jonveaux, Martine Vercelletto, Claire Boutoleau-Bretonnière, Giovanni Castelnovo, David Renaud, Philippe Robert, Claire Paquet, Julien Dumurgier, Jacques Hugon, Foucauld De Boisgueheneuc, Serge Belliard, Serge Bakchine, Marie Sarazin, Marie-Odile Barrellon, Bernard Laurent, Frédéric Blanc, Christine Tranchant, Jérémie Pariente, Michèle Puel, Caroline Hommet, Karl Mondon |
Abstract |
To study the association between ABCA7 rare coding variants and Alzheimer disease (AD) in a case-control setting. We conducted a whole exome analysis among 484 French patients with early-onset AD and 590 ethnically matched controls. After collapsing rare variants (minor allele frequency ≤1%), we detected an enrichment of ABCA7 loss of function (LOF) and predicted damaging missense variants in cases (odds ratio [OR] 3.40, 95% confidence interval [CI] 1.68-7.35, p = 0.0002). Performing a meta-analysis with previously published data, we found that in a combined sample of 1,256 patients and 1,347 controls from France and Belgium, the OR was 2.81 (95% CI 1.89-4.20, p = 3.60 × 10(-7)). These results confirm that ABCA7 LOF variants are enriched in patients with AD and extend this finding to predicted damaging missense variants. |
X Demographics
Geographical breakdown
Country | Count | As % |
---|---|---|
United States | 3 | 75% |
India | 1 | 25% |
Demographic breakdown
Type | Count | As % |
---|---|---|
Members of the public | 2 | 50% |
Practitioners (doctors, other healthcare professionals) | 1 | 25% |
Scientists | 1 | 25% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
United States | 3 | 3% |
Unknown | 104 | 97% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Researcher | 23 | 21% |
Student > Ph. D. Student | 19 | 18% |
Student > Master | 11 | 10% |
Student > Doctoral Student | 7 | 7% |
Student > Postgraduate | 7 | 7% |
Other | 17 | 16% |
Unknown | 23 | 21% |
Readers by discipline | Count | As % |
---|---|---|
Neuroscience | 18 | 17% |
Agricultural and Biological Sciences | 17 | 16% |
Biochemistry, Genetics and Molecular Biology | 16 | 15% |
Medicine and Dentistry | 13 | 12% |
Psychology | 4 | 4% |
Other | 11 | 10% |
Unknown | 28 | 26% |