The Polygenic Risk Score Knowledge Base offers a centralized online repository for calculating and contextualizing polygenic risk scores
Authors: Page Madeline L. , Vance Elizabeth L. , Cloward Matthew E. , Ringger Ed , Dayton Louisa , Ebbert Mark T. W. ,   The Alzheimer’s Disease Neuroimaging Initiative,   Principal Investigator, Weiner M. W. ,   ATRI PI and Director of Coordinating Center Clinical Core, Aisen P. , Petersen R. ,   Executive Committee, Jack C. R. , Jagust W. , Trojanowki J. Q. , Toga A. W. , Beckett L. , Green R. C. , Saykin A. J. , Morris J. C. , Perrin R. J. , Shaw L. M. ,   ADNI External Advisory Board (ESAB), Khachaturian Z. , Carrillo M. , Potter W. , Barnes L. , Bernard M. , González H. , Ho C. , Hsiao J. K. , Jackson J. , Masliah E. , Masterman D. , Okonkwo O. , Perrin R. , Ryan L. , Silverberg N. ,   ADNI 3 Private Partner Scientific Board (PPSB), Fleisher A. ,   Administrative Core - Northern California Institute for Research & Education (NCIRE / The Veterans Health Research Institute), Sacrey D. T. , Fockler J. , Conti C. , Veitch D. , Neuhaus J. , Jin C. , Nosheny R. , Ashford M. , Flenniken D. , Kormos A. ,   Data and Publications Committee,   Resource Allocation Review Committee, Monine T. ,   Clinical Core Leaders and Key Personnel, Rafii M. , Raman R. , Jimenez G. , Donohue M. , Gessert D. , Salazar J. , Zimmerman C. , Cabrera Y. , Walter S. , Miller G. , Coker G. , Clanton T. , Hergesheimer L. , Smith S. , Adegoke O. , Mahboubi P. , Moore S. , Pizzola J. , Shaffer E. , Sloan B. ,   Biostatistics Core Leaders and Key Personnel, Harvey D. ,   MRI Core Leaders and Key Personnel, Forghanian-Arani A. , Borowski B. , Ward C. , Schwarz C. , Jones D. , Gunter J. , Kantarci K. , Senjem M. , Vemuri P. , Reid R. , Fox N. C. , Malone I. , Thompson P. , Thomopoulos S. I. , Nir T. M. , Jahanshad N. , DeCarli C. , Knaack A. , Fletcher E. , Tosun-Turgut D. , Chen S. R. , Choe M. , Crawford K. , Yushkevich P. A. , Das S. ,   PET Core Leaders and Key Personnel, Koeppe R. A. , Reiman E. M. , Chen K. , Mathis C. , Landau S. ,   Neuropathology Core Leaders and Key Personnel, Cairns N. J. , Householder E. , Franklin E. , Bernhardt H. , Taylor-Reinwald L. ,   Biomarkers Core Leaders and Key Personnel, Shaw L. M. , Tojanowki J. Q. , Korecka M. , Figurski M. ,   Informatics Core Leaders and Key Personnel, Crawford K. , Neu S. ,   Genetics Core Leaders and Key Personnel, Nho K. , Risacher S. L. , Apostolova L. G. , Shen L. , Foroud T. M. , Nudelman K. , Faber K. , Wilmes K. ,   Initial Concept Planning and Development, Winer M. W. , Thal L. ,   National Institute on Aging, Hsiao J. K. ,   Oregon Health & Science University Investigators, Silbert L. C. , Lind B. , Crissey R. , Kaye J. A. , Carter R. , Dolen S. , Quinn J. ,   University of Southern California Investigators, Schneider L. S. , Pawluczyk S. , Becerra M. , Teodoro L. , Dagerman K. , Spann B. M. ,   University of California, San Diego Investigators, Brewer J. , Vanderswag H. , Fleisher A. ,   University of Michigan Investigators, Ziolkowski J. , Heidebrink J. L. , Zbizek-Nulph L. , Lord J. L. ,   Mayo Clinic, Rochester Investigators, Mason S. S. , Albers C. S. , Knopman D. , Johnson K. ,   Baylor College of Medicine Investigators, Villanueva-Meyer J. , Pavlik V. , Pacini N. , Lamb A. , Kass J. S. , Doody R. S. , Shibley V. , Chowdhury M. , Rountree S. , Dang M. ,   Columbia University Medical Center Investigators, Stern Y. , Honig L. S. , Mintz A. ,   Washington University in St. Louis Investigators, Ances B. , Winkfield D. , Carroll M. , Stobbs-Cucchi G. , Oliver A. , Creech M. L. , Mintun M. A. , Schneider S. ,   University of Alabama, Birmingham Investigators, Geldmacher D. , Love M. N. , Griffith R. , Clark D. , Brockington J. , Marson D. ,   Mount Sinai School of Medicine Investigators, Grossman H. , Goldstein M. A. , Greenberg J. , Mitsis E. ,   Rush University Medical Center Investigators, Shah R. C. , Lamar M. , Samuels P. ,   Wien Center Investigators, Duara R. , Greig-Custo M. T. , Rodriguez R. ,   Johns Hopkins University Investigators, Albert M. , Onyike C. , Farrington L. , Rudow S. , Brichko R. , Kielb S. ,   University of South Florida: USF Health Byrd Alzheimer’s Institute Investigators, Smith A. , Raj B. A. , Fargher K. ,   New York University Investigators, Sadowski M. , Wisniewski T. , Shulman M. , Faustin A. , Rao J. , Castro K. M. , Ulysse A. , Chen S. , Sheikh M. O. , Singleton-Garvin J. ,   Duke University Medical Center Investigators, Doraiswamy P. M. , Petrella J. R. , James O. , Wong T. Z. , Borges-Neto S. ,   University of Pennsylvania Investigators, Karlawish J. H. , Wolk D. A. , Vaishnavi S. , Clark C. M. , Arnold S. E. ,   University of Kentucky Investigators, Smith C. D. , Jicha G. A. , Khouli R. E. , Raslau F. D. ,   University of Pittsburgh Investigators, Lopez O. L. , Oakley M. , Simpson D. M. ,   University of Rochester Medical Center Investigators, Porsteinsson A. P. , Martin K. , Kowalski N. , Keltz M. , Goldstein B. S. , Makino K. M. , Ismail M. S. , Brand C. ,   University of California Irvine Institute for Memory Impairments and Neurological Disorders Investigators, Thai G. , Pierce A. , Yanez B. , Sosa E. , Witbracht M. ,   University of Texas Southwestern Medical School Investigators, Kelley B. , Nguyen T. , Womack K. , Mathews D. , Quiceno M. ,   Emory University Investigators, Levey A. I. , Lah J. J. , Hajjar I. , Cellar J. S. ,   University of Kansas Medical Center Investigators, Burns J. M. , Swerdlow R. H. , Brooks W. M. ,   University of California, Los Angeles Investigators, Silverman D. H. S. , Kremen S. , Apostolova L. , Tingus K. , Lu P. H. , Bartzokis G. , Woo E. , Teng E. ,   Mayo Clinic, Jacksonville Investigators, Graff-Radford N. R. , Parfitt F. , Poki-Walker K. ,   Indiana University Investigators, Farlow M. R. , Hake A. M. , Matthews B. R. , Brosch J. R. , Herring S. ,   Yale University School of Medicine Investigators, van Dyck C. H. , Mecca A. P. , Good S. P. , MacAvoy M. G. , Carson R. E. , Varma P. ,   McGill University, Montreal-Jewish General Hospital Investigators, Chertkow H. , Vaitekunis S. , Hosein C. ,   Sunnybrook Health Sciences, Ontario Investigators, Black S. , Stefanovic B. , Heyn C. ,   University of British Columbia Clinic for Alzheimer’s Disease and Related Disorders Investigators, Hsiung G. R. , Kim E. , Mudge B. , Sossi V. , Feldman H. , Assaly M. ,   St. Joseph’s Health Care Investigators, Finger E. , Pasternak S. , Rachinsky I. , Kertesz A. , Drost D. , Rogers J. ,   Northwestern University Investigators, Grant I. , Muse B. , Rogalski E. , Robson J. , Mesulam M. , Kerwin D. , Wu C. , Johnson N. , Lipowski K. , Weintraub S. , Bonakdarpour B. ,   Nathan Kline Institute Investigators, Pomara N. , Hernando R. , Sarrael A. ,   University of California, San Francisco Investigators, Rosen H. J. , Miller B. L. , Perry D. ,   Georgetown University Medical Center Investigators, Turner R. S. , Johnson K. , Reynolds B. , McCann K. , Poe J. ,   Brigham and Women’s Hospital Investigators, Sperling R. A. , Johnson K. A. , Marshall G. A. ,   Stanford University Investigators, Yesavage J. , Taylor J. L. , Chao S. , Coleman J. , White J. D. , Lane B. , Rosen A. , Tinklenberg J. ,   Banner Sun Health Research Institute Investigators, Belden C. M. , Atri A. , Spann B. M. , Clark K. A. , Zamrini E. , Sabbagh M. ,   Boston University Investigators, Killiany R. , Stern R. , Mez J. , Kowall N. , Budson A. E. ,   Howard University Investigators, Obisesan T. O. , Ntekim O. E. , Wolday S. , Khan J. I. , Nwulia E. , Nadarajah S. ,   Case Western Reserve University Investigators, Lerner A. , Ogrocki P. , Tatsuoka C. , Fatica P. ,   University of California, Davis-Sacramento Investigators, Fletcher E. , Maillard P. , Olichney J. , DeCarli C. , Carmichael O. ,   Dent Neurologic Institute Investigators, Bates V. , Capote H. , Rainka M. ,   Parkwood Institute Investigators, Borrie M. , Lee T. , Bartha R. ,   University of Wisconsin Investigators, Johnson S. , Asthana S. , Carlson C. M. ,   Banner Alzheimer’s Institute Investigators, Perrin A. , Burke A. ,   Ohio State University Investigators, Scharre D. W. , Kataki M. , Tarawneh R. , Kelley B. ,   Albany Medical College Investigators, Hart D. , Zimmerman E. A. , Celmins D. ,   University of Iowa College of Medicine Investigators, Miller D. D. , Ponto L. L. B. , Smith K. E. , Koleva H. , Shim H. , Nam K. W. , Schultz S. K. ,   Wake Forest University Health Sciences Investigators, Williamson J. D. , Craft S. , Cleveland J. , Yang M. , Sink K. M. ,   Rhode Island Hospital Investigators, Ott B. R. , Drake J. D. , Tremont G. , Daiello L. A. ,   Cleveland Clinic Lou Ruvo Center for Brain Health Investigators, Sabbagh M. , Ritter A. , Bernick C. , Munic D. , Mintz A. ,   Roper St. Francis Healthcare Investigators, O’Connell A. , Mintzer J. , Williams A. ,   Houston Methodist Neurological Institute Investigators, Masdeu J. ,   Barrow Neurological Institute Investigators, Shi J. , Garcia A. , Sabbagh M. ,   Vanderbilt University Medical Center Investigators, Newhouse P. ,   Long Beach Veterans Affairs Neuropsychiatric Research Program Investigators, Potkin S. ,   Butler Hospital Memory and Aging Program Investigators, Salloway S. , Malloy P. , Correia S. ,   Neurological Care of Central New York Investigators, Kittur S. ,   Hartford Hospital, Olin Neuropsychiatry Research Center Investigators, Perlson G. D. , Blank K. , Anderson K. ,   Dartmouth-Hitchcock Medical Center Investigators, Flashman L. A. , Seltzer M. , Hynes M. L. , Santulli R. B. ,   Cornell University Investigators, Relkin N. , Chiang G. , Lee A. , Lin M. , Ravdin L. , Miller Justin B. , Kauwe John S. K. 
Published: September 2022

AbstractThe process of identifying suitable genome-wide association (GWA) studies and formatting the data to calculate multiple polygenic risk scores on a single genome can be laborious. Here, we present a centralized polygenic risk score calculator currently containing over 250,000 genetic variant associations from the NHGRI-EBI GWAS Catalog for users to easily calculate sample-specific polygenic risk scores with comparable results to other available tools. Polygenic risk scores are calculated either online through the Polygenic Risk Score Knowledge Base (PRSKB; https://prs.byu.edu) or via a command-line interface. We report study-specific polygenic risk scores across the UK Biobank, 1000 Genomes, and the Alzheimer’s Disease Neuroimaging Initiative (ADNI), contextualize computed scores, and identify potentially confounding genetic risk factors in ADNI. We introduce a streamlined analysis tool and web interface to calculate and contextualize polygenic risk scores across various studies, which we anticipate will facilitate a wider adaptation of polygenic risk scores in future disease research.