Missense and loss-of-function variants at GWAS loci in familial Alzheimer's disease,Alzheimer's & Dementia

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Missense and loss-of-function variants at GWAS loci in familial Alzheimer's disease
Alzheimer's & Dementia ( IF 13.0 ) Pub Date : 2024-09-05 , DOI: 10.1002/alz.14221
Tamil Iniyan Gunasekaran ₁ , Dolly Reyes-Dumeyer ₁ , Kelley M Faber ₂ , Alison Goate ₃ , Brad Boeve ₄ , Carlos Cruchaga ₅ , Margaret Pericak-Vance ₆ , Jonathan L Haines ₇ , Roger Rosenberg ₈ , Debby Tsuang ₉ , Diones Rivera Mejia _{10,

11} , Martin Medrano ₁₂ , Rafael A Lantigua _{1,

13} , Robert A Sweet ₁₄ , David A Bennett ₁₅ , Robert S Wilson ₁₅ , Camille Alba ₁₆ , Clifton Dalgard ₁₆ , Tatiana Foroud ₂ , Badri N Vardarajan ₁ , Richard Mayeux ₁

Affiliation

Department of Neurology, Taub Institute for Research on Alzheimer's Disease and the Aging Brain and the Gertrude H. Sergievsky Center, Columbia University, New York, New York, USA.
Department of Medical and Molecular Genetics, National Centralized Repository for Alzheimer's Disease and Related Dementias (NCRAD), 410 W. 10th St., HS 4000. Indiana University School of Medicine, Indianapolis, Indiana, USA.
Department of Genetics & Genomic Sciences, Ronald M. Loeb Center for Alzheimer's disease, Icahn School of Medicine at Mount Sinai, Icahn Bldg., One Gustave L. Levy Place, New York, New York, USA.
Department of Neurology, Mayo Clinic, Rochester, Minnesota, USA.
Department of Psychiatry, Washington University in St. Louis, Rand Johnson Building, 600 S Euclid Ave., Wohl Hospital Building, St. Louis, Missouri, USA.
John P Hussman Institute for Human Genomics, Dr. John T Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, Florida, USA.
Department of Population & Quantitative Health Sciences and Cleveland Institute for Computational Biology. Case Western Reserve University, Cleveland, Ohio, USA.
Department of Neurology, University of Texas Southwestern Medical Center, Dallas, Texas, USA.
Department of Psychiatry and Behavioral Sciences, University of Washington, GRECC VA Puget Sound, 1660 South Columbian Way, Seattle, Washington, USA.
Los Centros de Diagnóstico y Medicina Avanzada y de Conferencias Médicas y Telemedicina, CEDIMAT, Arturo Logroño, Plaza de la Salud, Dr. Juan Manuel Taveras Rodríguez, C. Pepillo Salcedo esq, Santo Domingo, Dominican Republic.
Universidad Pedro Henríquez Urena, Av. John F. Kennedy Km. 7-1/2 Santo Domingo 1423, Santo Domingo, Dominican Republic.
Pontíficia Universidad Católica Madre y Maestra (PUCMM), Autopista Duarte Km 1 1/2, Santiago de los Caballeros, Dominican Republic.
Department of Medicine, Vagelos College of Physicians and Surgeons, Columbia University, and the New York Presbyterian Hospital, New York, New York, USA.
Departments of Psychiatry and Neurology, University of Pittsburgh, Pittsburgh, Pennsylvania, USA.
Rush Alzheimer's Disease Center, Rush University Medical Center, 1750, West Harrison St, Chicago, Illinois, USA.
Department of Anatomy, Physiology and Genetics, Uniformed Services University of the Health Sciences, Bethesda, Maryland, USA.

Few rare variants have been identified in genetic loci from genome-wide association studies (GWAS) of Alzheimer's disease (AD), limiting understanding of mechanisms, risk assessment, and genetic counseling.

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