Publication Information (EuropePMC) | |
Title | Multi-ancestry genome-wide association analyses improve resolution of genes and pathways influencing lung function and chronic obstructive pulmonary disease risk. |
PubMed ID | 36914875(Europe PMC) |
doi | 10.1038/s41588-023-01314-0 |
Publication Date | March 13, 2023 |
Journal | Nat Genet |
Author(s) | Shrine N, Izquierdo AG, Chen J, Packer R, Hall RJ, Guyatt AL, Batini C, Thompson RJ, Pavuluri C, Malik V, Hobbs BD, Moll M, Kim W, Tal-Singer R, Bakke P, Fawcett KA, John C, Coley K, Piga NN, Pozarickij A, Lin K, Millwood IY, Chen Z, Li L, China Kadoorie Biobank Collaborative Group, Wijnant SRA, Lahousse L, Brusselle G, Uitterlinden AG, Manichaikul A, Oelsner EC, Rich SS, Barr RG, Kerr SM, Vitart V, Brown MR, Wielscher M, Imboden M, Jeong A, Bartz TM, Gharib SA, Flexeder C, Karrasch S, Gieger C, Peters A, Stubbe B, Hu X, Ortega VE, Meyers DA, Bleecker ER, Gabriel SB, Gupta N, Smith AV, Luan J, Zhao JH, Hansen AF, Langhammer A, Willer C, Bhatta L, Porteous D, Smith BH, Campbell A, Sofer T, Lee J, Daviglus ML, Yu B, Lim E, Xu H, O'Connor GT, Thareja G, Albagha OME, Qatar Genome Program Research (QGPR) Consortium, Suhre K, Granell R, Faquih TO, Hiemstra PS, Slats AM, Mullin BH, Hui J, James A, Beilby J, Patasova K, Hysi P, Koskela JT, Wyss AB, Jin J, Sikdar S, Lee M, May-Wilson S, Pirastu N, Kentistou KA, Joshi PK, Timmers PRHJ, Williams AT, Free RC, Wang X, Morrison JL, Gilliland FD, Chen Z, Wang CA, Foong RE, Harris SE, Taylor A, Redmond P, Cook JP, Mahajan A, Lind L, Palviainen T, Lehtimäki T, Raitakari OT, Kaprio J, Rantanen T, Pietiläinen KH, Cox SR, Pennell CE, Hall GL, Gauderman WJ, Brightling C, Wilson JF, Vasankari T, Laitinen T, Salomaa V, Mook-Kanamori DO, Timpson NJ, Zeggini E, Dupuis J, Hayward C, Brumpton B, Langenberg C, Weiss S, Homuth G, Schmidt CO, Probst-Hensch N, Jarvelin MR, Morrison AC, Polasek O, Rudan I, Lee JH, Sayers I, Rawlins EL, Dudbridge F, Silverman EK, Strachan DP, Walters RG, Morris AP, London SJ, Cho MH, Wain LV, Hall IP, Tobin MD. |
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) |
---|---|---|---|---|---|---|
PGS003865 (multiancestry_LF_GRS_FF_weights_EAS) |
PGP000500 | Shrine N et al. Nat Genet (2023) |
Lung function (FEV1/FVC) | FEV/FVC ratio | 406 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003865/ScoringFiles/PGS003865.txt.gz |
PGS003862 (multiancestry_LF_GRS_FF_weights_EUR) |
PGP000500 | Shrine N et al. Nat Genet (2023) |
Lung function (FEV1/FVC) | FEV/FVC ratio | 442 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003862/ScoringFiles/PGS003862.txt.gz |
PGS003863 (multiancestry_LF_GRS_FF_weights_AFR) |
PGP000500 | Shrine N et al. Nat Genet (2023) |
Lung function (FEV1/FVC) | FEV/FVC ratio | 437 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003863/ScoringFiles/PGS003863.txt.gz |
PGS003864 (multiancestry_LF_GRS_FF_weights_AMR) |
PGP000500 | Shrine N et al. Nat Genet (2023) |
Lung function (FEV1/FVC) | FEV/FVC ratio | 434 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003864/ScoringFiles/PGS003864.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 |
---|---|---|---|---|---|---|---|---|---|
PPM018752 | PGS003862 (multiancestry_LF_GRS_FF_weights_EUR) |
PSS011096| European Ancestry| 320,656 individuals |
PGP000500 | Shrine N et al. Nat Genet (2023) |
Reported Trait: FEV1/FVC ratio | β: 0.2787 [0.2753, 0.282] | — | — | age, age^2, sex, height, smoking, 10 genetic PCs | Beta = Standard deviation (SD) change of FEV1/FVC per SD change of GRS |
PPM018753 | PGS003863 (multiancestry_LF_GRS_FF_weights_AFR) |
PSS011093| African Ancestry| 4,227 individuals |
PGP000500 | Shrine N et al. Nat Genet (2023) |
Reported Trait: FEV1/FVC ratio | β: 0.1534 [0.1106, 0.1961] | — | — | age, age^2, sex, height, smoking, 10 genetic PCs | Beta = Standard deviation (SD) change of FEV1/FVC per SD change of GRS |
PPM018754 | PGS003864 (multiancestry_LF_GRS_FF_weights_AMR) |
PSS011094| Hispanic or Latin American Ancestry| 2,798 individuals |
PGP000500 | Shrine N et al. Nat Genet (2023) |
Reported Trait: FEV1/FVC ratio | β: 0.254 [0.2163, 0.2917] | — | — | age, age^2, sex, height, smoking, 10 genetic PCs | Beta = Standard deviation (SD) change of FEV1/FVC per SD change of GRS |
PPM018755 | PGS003865 (multiancestry_LF_GRS_FF_weights_EAS) |
PSS011095| East Asian Ancestry| 1,564 individuals |
PGP000500 | Shrine N et al. Nat Genet (2023) |
Reported Trait: FEV1/FVC ratio | β: 0.196 [0.1203, 0.2716] | — | — | age, age^2, sex, height, smoking, 10 genetic PCs | Beta = Standard deviation (SD) change of FEV1/FVC per SD change of GRS |
PPM018756 | PGS003862 (multiancestry_LF_GRS_FF_weights_EUR) |
PSS011092| European Ancestry| 11,074 individuals |
PGP000500 | Shrine N et al. Nat Genet (2023) |
Reported Trait: Chronic obstructive pulmonary disease | OR: 1.63 [1.56, 1.71] | — | — | age, age^2, sex, height, smoking | — |
PPM018757 | PGS003863 (multiancestry_LF_GRS_FF_weights_AFR) |
PSS011091| African Ancestry| 2,886 individuals |
PGP000500 | Shrine N et al. Nat Genet (2023) |
Reported Trait: Chronic obstructive pulmonary disease | OR: 1.23 [1.13, 1.34] | — | — | age, age^2, sex, height, smoking | — |
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 |
---|---|---|---|---|---|---|---|---|
PSS011091 | — | — | [
|
— | African unspecified | — | COPDGene, SPIROMICS | — |
PSS011092 | — | — | [
|
— | European | — | 6 cohorts
|
— |
PSS011093 | — | — | 4,227 individuals | — | African unspecified | — | UKB | — |
PSS011094 | — | — | 2,798 individuals | — | Hispanic or Latin American | — | UKB | — |
PSS011095 | — | — | 1,564 individuals | — | East Asian | — | UKB | — |
PSS011096 | — | — | 320,656 individuals | — | European | — | UKB | — |