| 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. |
| Polygenic Score ID & Name | PGS Publication ID (PGP) | Reported Trait | Mapped Trait(s) (Ontology) | Number of Variants |
Ancestry distribution GWAS Dev Eval |
Scoring File (FTP Link) |
|---|---|---|---|---|---|---|
| PGS000898 (PRS39_AD) |
PGP000231 | de Rojas I et al. Nat Commun (2021) |
Alzheimer's disease | Alzheimer disease | 40 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000898/ScoringFiles/PGS000898.txt.gz |
|
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) | — |
|
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. | — | [ ,
29.2 % Male samples |
— | European (Spanish) |
— | EADB | — |