PGS Publication: PGP000231

Publication Information (EuropePMC)
Title Common variants in Alzheimer's disease and risk stratification by polygenic risk scores.
PubMed ID 34099642(Europe PMC)
doi 10.1038/s41467-021-22491-8
Publication Date June 7, 2021
Journal Nat Commun
Author(s) de Rojas I, Moreno-Grau S, Tesi N, Grenier-Boley B, Andrade V, Jansen IE, Pedersen NL, Stringa N, Zettergren A, Hernández I, Montrreal L, Antúnez C, Antonell A, Tankard RM, Bis JC, Sims R, Bellenguez C, Quintela I, González-Perez A, Calero M, Franco-Macías E, Macías J, Blesa R, Cervera-Carles L, Menéndez-González M, Frank-García A, Royo JL, Moreno F, Huerto Vilas R, Baquero M, Diez-Fairen M, Lage C, García-Madrona S, García-González P, Alarcón-Martín E, Valero S, Sotolongo-Grau O, Ullgren A, Naj AC, Lemstra AW, Benaque A, Pérez-Cordón A, Benussi A, Rábano A, Padovani A, Squassina A, de Mendonça A, Arias Pastor A, Kok AAL, Meggy A, Pastor AB, Espinosa A, Corma-Gómez A, Martín Montes A, Sanabria Á, DeStefano AL, Schneider A, Haapasalo A, Kinhult Ståhlbom A, Tybjærg-Hansen A, Hartmann AM, Spottke A, Corbatón-Anchuelo A, Rongve A, Borroni B, Arosio B, Nacmias B, Nordestgaard BG, Kunkle BW, Charbonnier C, Abdelnour C, Masullo C, Martínez Rodríguez C, Muñoz-Fernandez C, Dufouil C, Graff C, Ferreira CB, Chillotti C, Reynolds CA, Fenoglio C, Van Broeckhoven C, Clark C, Pisanu C, Satizabal CL, Holmes C, Buiza-Rueda D, Aarsland D, Rujescu D, Alcolea D, Galimberti D, Wallon D, Seripa D, Grünblatt E, Dardiotis E, Düzel E, Scarpini E, Conti E, Rubino E, Gelpi E, Rodriguez-Rodriguez E, Duron E, Boerwinkle E, Ferri E, Tagliavini F, Küçükali F, Pasquier F, Sanchez-Garcia F, Mangialasche F, Jessen F, Nicolas G, Selbæk G, Ortega G, Chêne G, Hadjigeorgiou G, Rossi G, Spalletta G, Giaccone G, Grande G, Binetti G, Papenberg G, Hampel H, Bailly H, Zetterberg H, Soininen H, Karlsson IK, Alvarez I, Appollonio I, Giegling I, Skoog I, Saltvedt I, Rainero I, Rosas Allende I, Hort J, Diehl-Schmid J, Van Dongen J, Vidal JS, Lehtisalo J, Wiltfang J, Thomassen JQ, Kornhuber J, Haines JL, Vogelgsang J, Pineda JA, Fortea J, Popp J, Deckert J, Buerger K, Morgan K, Fließbach K, Sleegers K, Molina-Porcel L, Kilander L, Weinhold L, Farrer LA, Wang LS, Kleineidam L, Farotti L, Parnetti L, Tremolizzo L, Hausner L, Benussi L, Froelich L, Ikram MA, Deniz-Naranjo MC, Tsolaki M, Rosende-Roca M, Löwenmark M, Hulsman M, Spallazzi M, Pericak-Vance MA, Esiri M, Bernal Sánchez-Arjona M, Dalmasso MC, Martínez-Larrad MT, Arcaro M, Nöthen MM, Fernández-Fuertes M, Dichgans M, Ingelsson M, Herrmann MJ, Scherer M, Vyhnalek M, Kosmidis MH, Yannakoulia M, Schmid M, Ewers M, Heneka MT, Wagner M, Scamosci M, Kivipelto M, Hiltunen M, Zulaica M, Alegret M, Fornage M, Roberto N, van Schoor NM, Seidu NM, Banaj N, Armstrong NJ, Scarmeas N, Scherbaum N, Goldhardt O, Hanon O, Peters O, Skrobot OA, Quenez O, Lerch O, Bossù P, Caffarra P, Dionigi Rossi P, Sakka P, Hoffmann P, Holmans PA, Fischer P, Riederer P, Yang Q, Marshall R, Kalaria RN, Mayeux R, Vandenberghe R, Cecchetti R, Ghidoni R, Frikke-Schmidt R, Sorbi S, Hägg S, Engelborghs S, Helisalmi S, Botne Sando S, Kern S, Archetti S, Boschi S, Fostinelli S, Gil S, Mendoza S, Mead S, Ciccone S, Djurovic S, Heilmann-Heimbach S, Riedel-Heller S, Kuulasmaa T, Del Ser T, Lebouvier T, Polak T, Ngandu T, Grimmer T, Bessi V, Escott-Price V, Giedraitis V, Deramecourt V, Maier W, Jian X, Pijnenburg YAL, EADB contributors, GR@ACE study group, DEGESCO consortium, IGAP (ADGC, CHARGE, EADI, GERAD), PGC-ALZ consortia, Kehoe PG, Garcia-Ribas G, Sánchez-Juan P, Pastor P, Pérez-Tur J, Piñol-Ripoll G, Lopez de Munain A, García-Alberca JM, Bullido MJ, Álvarez V, Lleó A, Real LM, Mir P, Medina M, Scheltens P, Holstege H, Marquié M, Sáez ME, Carracedo Á, Amouyel P, Schellenberg GD, Williams J, Seshadri S, van Duijn CM, Mather KA, Sánchez-Valle R, Serrano-Ríos M, Orellana A, Tárraga L, Blennow K, Huisman M, Andreassen OA, Posthuma D, Clarimón J, Boada M, van der Flier WM, Ramirez A, Lambert JC, van der Lee SJ, Ruiz A.
Released in PGS Catalog: Sept. 17, 2021

Associated Polygenic Score(s)

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Individuals included in:
G - Source of Variant Associations (GWAS)
D - Score Development/Training
E - PGS Evaluation
List of ancestries includes:
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Hispanic or Latin American
Additional Diverse Ancestries
Not Reported

PGS Developed By This Publication

Polygenic Score ID & Name PGS Publication ID (PGP) Reported Trait Mapped Trait(s) (Ontology) Number of Variants Ancestry distribution Scoring File (FTP Link)
PGS000898
(PRS39_AD)
PGP000231 |
de Rojas I et al. Nat Commun (2021)
Alzheimer's disease Alzheimer's disease 40
http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000898/ScoringFiles/PGS000898.txt.gz

Performance Metrics

Disclaimer: The performance metrics are displayed as reported by the source studies. It is important to note that metrics are not necessarily comparable with each other. For example, metrics depend on the sample characteristics (described by the PGS Catalog Sample Set [PSS] ID), phenotyping, and statistical modelling. Please refer to the source publication for additional guidance on performance.

PGS Performance
Metric ID (PPM)
Evaluated Score PGS Sample Set ID
(PSS)
Performance Source Trait PGS Effect Sizes
(per SD change)
Classification Metrics Other Metrics Covariates Included in the Model PGS Performance:
Other Relevant Information
PPM002634 PGS000898
(PRS39_AD)
PSS001167|
European Ancestry|
2,394 individuals
PGP000231 |
de Rojas I et al. Nat Commun (2021)
Reported Trait: Alzheimer's disease (clinically confirmed) OR: 1.3 [1.18, 1.44] PCs(1-4)
PPM002635 PGS000898
(PRS39_AD)
PSS001167|
European Ancestry|
2,394 individuals
PGP000231 |
de Rojas I et al. Nat Commun (2021)
Reported Trait: Alzheimer's disease (pathologically confirmed) OR: 1.38 [1.21, 1.58] PCs(1-4)
PPM002636 PGS000898
(PRS39_AD)
PSS001167|
European Ancestry|
2,394 individuals
PGP000231 |
de Rojas I et al. Nat Commun (2021)
Reported Trait: Alzheimer's disease (pathologically confirmed, males) OR: 1.33 [1.13, 1.56] PCs(1-4)
PPM002637 PGS000898
(PRS39_AD)
PSS001167|
European Ancestry|
2,394 individuals
PGP000231 |
de Rojas I et al. Nat Commun (2021)
Reported Trait: Alzheimer's disease (pathologically confirmed, females) OR: 1.32 [1.19, 1.47] PCs(1-4)
PPM002638 PGS000898
(PRS39_AD)
PSS001167|
European Ancestry|
2,394 individuals
PGP000231 |
de Rojas I et al. Nat Commun (2021)
Reported Trait: Early-onset Alzheimer's disease (< 65 years) OR: 1.58 [1.22, 2.05] PCs(1-4)
PPM002639 PGS000898
(PRS39_AD)
PSS001167|
European Ancestry|
2,394 individuals
PGP000231 |
de Rojas I et al. Nat Commun (2021)
Reported Trait: Late-onset Alzheimer's disease (> 85 years) OR: 1.29 [1.1, 1.51] PCs(1-4)

Evaluated Samples

PGS Sample Set ID
(PSS)
Phenotype Definitions and Methods Participant Follow-up Time Sample Numbers Age of Study Participants Sample Ancestry Additional Ancestry Description Cohort(s) Additional Sample/Cohort Information
PSS001167 Cases were individuals with pathologically or clinically diagnosed Alzheimer's disease (AD). Of the 1008 AD cases, 332 had been confirmed pathologically whilst 676 had been confirmed clinically. Pathological AD was confirmed by the Biobanc Hospital Clínic–IDIBAPS, whilst clinical diagnosis of AD was based on clinical criteria from Fundació ACE.
[
  • 1,008 cases
  • , 1,386 controls
]
,
29.2 % Male samples
European
(Spanish)
EADB