PGS Publication: PGP000063

Publication Information (EuropePMC)
Title Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels.
PubMed ID 31578528(Europe PMC)
doi 10.1038/s41588-019-0504-x
Publication Date Oct. 2, 2019
Journal Nat Genet
Author(s) Tin A, Marten J, Halperin Kuhns VL, Li Y, Wuttke M, Kirsten H, Sieber KB, Qiu C, Gorski M, Yu Z, Giri A, Sveinbjornsson G, Li M, Chu AY, Hoppmann A, O'Connor LJ, Prins B, Nutile T, Noce D, Akiyama M, Cocca M, Ghasemi S, van der Most PJ, Horn K, Xu Y, Fuchsberger C, Sedaghat S, Afaq S, Amin N, Ärnlöv J, Bakker SJL, Bansal N, Baptista D, Bergmann S, Biggs ML, Biino G, Boerwinkle E, Bottinger EP, Boutin TS, Brumat M, Burkhardt R, Campana E, Campbell A, Campbell H, Carroll RJ, Catamo E, Chambers JC, Ciullo M, Concas MP, Coresh J, Corre T, Cusi D, Felicita SC, de Borst MH, De Grandi A, de Mutsert R, de Vries APJ, Delgado G, Demirkan A, Devuyst O, Dittrich K, Eckardt KU, Ehret G, Endlich K, Evans MK, Gansevoort RT, Gasparini P, Giedraitis V, Gieger C, Girotto G, Gögele M, Gordon SD, Gudbjartsson DF, Gudnason V, German Chronic Kidney Disease Study, Haller T, Hamet P, Harris TB, Hayward C, Hicks AA, Hofer E, Holm H, Huang W, Hutri-Kähönen N, Hwang SJ, Ikram MA, Lewis RM, Ingelsson E, Jakobsdottir J, Jonsdottir I, Jonsson H, Joshi PK, Josyula NS, Jung B, Kähönen M, Kamatani Y, Kanai M, Kerr SM, Kiess W, Kleber ME, Koenig W, Kooner JS, Körner A, Kovacs P, Krämer BK, Kronenberg F, Kubo M, Kühnel B, La Bianca M, Lange LA, Lehne B, Lehtimäki T, Lifelines Cohort Study, Liu J, Loeffler M, Loos RJF, Lyytikäinen LP, Magi R, Mahajan A, Martin NG, März W, Mascalzoni D, Matsuda K, Meisinger C, Meitinger T, Metspalu A, Milaneschi Y, V. A. Million Veteran Program, O'Donnell CJ, Wilson OD, Gaziano JM, Mishra PP, Mohlke KL, Mononen N, Montgomery GW, Mook-Kanamori DO, Müller-Nurasyid M, Nadkarni GN, Nalls MA, Nauck M, Nikus K, Ning B, Nolte IM, Noordam R, O'Connell JR, Olafsson I, Padmanabhan S, Penninx BWJH, Perls T, Peters A, Pirastu M, Pirastu N, Pistis G, Polasek O, Ponte B, Porteous DJ, Poulain T, Preuss MH, Rabelink TJ, Raffield LM, Raitakari OT, Rettig R, Rheinberger M, Rice KM, Rizzi F, Robino A, Rudan I, Krajcoviechova A, Cifkova R, Rueedi R, Ruggiero D, Ryan KA, Saba Y, Salvi E, Schmidt H, Schmidt R, Shaffer CM, Smith AV, Smith BH, Spracklen CN, Strauch K, Stumvoll M, Sulem P, Tajuddin SM, Teren A, Thiery J, Thio CHL, Thorsteinsdottir U, Toniolo D, Tönjes A, Tremblay J, Uitterlinden AG, Vaccargiu S, van der Harst P, van Duijn CM, Verweij N, Völker U, Vollenweider P, Waeber G, Waldenberger M, Whitfield JB, Wild SH, Wilson JF, Yang Q, Zhang W, Zonderman AB, Bochud M, Wilson JG, Pendergrass SA, Ho K, Parsa A, Pramstaller PP, Psaty BM, Böger CA, Snieder H, Butterworth AS, Okada Y, Edwards TL, Stefansson K, Susztak K, Scholz M, Heid IM, Hung AM, Teumer A, Pattaro C, Woodward OM, Vitart V, Köttgen A.
Released in PGS Catalog: March 27, 2020

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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Multi-ancestry (including European)
Multi-ancestry (excluding European)
African
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Greater Middle Eastern
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 PGS Scoring File (FTP Link)
PGS000126
(Urate_GRS)
PGP000063 |
Tin A et al. Nat Genet (2019)
Serum urate urate measurement 114
-
http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000126/ScoringFiles/PGS000126.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
PPM000406 PGS000126
(Urate_GRS)
PSS000233|
European Ancestry|
334,880 individuals
PGP000063 |
Tin A et al. Nat Genet (2019)
Reported Trait: Prevalent gout cases AUROC: 0.84 age, sex
PPM000405 PGS000126
(Urate_GRS)
PSS000233|
European Ancestry|
334,880 individuals
PGP000063 |
Tin A et al. Nat Genet (2019)
Reported Trait: Prevalent gout cases AUROC: 0.67

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
PSS000233 Gout identified by self-report at the inclusion visit, individuals with an ICD-10 for gout (M10) in hospital admissions who did not self-report gout were excluded from the analysis.
[
  • 4,908 cases
  • , 329,972 controls
]
European White British subset, unrelated UKB