| Publication Information (EuropePMC) | |
| Title | Genome-wide analysis in over 1 million individuals of European ancestry yields improved polygenic risk scores for blood pressure traits. |
| PubMed ID | 38689001(Europe PMC) |
| doi | 10.1038/s41588-024-01714-w |
| Publication Date | April 30, 2024 |
| Journal | Nat Genet |
| Author(s) | Keaton JM, Kamali Z, Xie T, Vaez A, Williams A, Goleva SB, Ani A, Evangelou E, Hellwege JN, Yengo L, Young WJ, Traylor M, Giri A, Zheng Z, Zeng J, Chasman DI, Morris AP, Caulfield MJ, Hwang SJ, Kooner JS, Conen D, Attia JR, Morrison AC, Loos RJF, Kristiansson K, Schmidt R, Hicks AA, Pramstaller PP, Nelson CP, Samani NJ, Risch L, Gyllensten U, Melander O, Riese H, Wilson JF, Campbell H, Rich SS, Psaty BM, Lu Y, Rotter JI, Guo X, Rice KM, Vollenweider P, Sundström J, Langenberg C, Tobin MD, Giedraitis V, Luan J, Tuomilehto J, Kutalik Z, Ripatti S, Salomaa V, Girotto G, Trompet S, Jukema JW, van der Harst P, Ridker PM, Giulianini F, Vitart V, Goel A, Watkins H, Harris SE, Deary IJ, van der Most PJ, Oldehinkel AJ, Keavney BD, Hayward C, Campbell A, Boehnke M, Scott LJ, Boutin T, Mamasoula C, Järvelin MR, Peters A, Gieger C, Lakatta EG, Cucca F, Hui J, Knekt P, Enroth S, De Borst MH, Polašek O, Concas MP, Catamo E, Cocca M, Li-Gao R, Hofer E, Schmidt H, Spedicati B, Waldenberger M, Strachan DP, Laan M, Teumer A, Dörr M, Gudnason V, Cook JP, Ruggiero D, Kolcic I, Boerwinkle E, Traglia M, Lehtimäki T, Raitakari OT, Johnson AD, Newton-Cheh C, Brown MJ, Dominiczak AF, Sever PJ, Poulter N, Chambers JC, Elosua R, Siscovick D, Esko T, Metspalu A, Strawbridge RJ, Laakso M, Hamsten A, Hottenga JJ, de Geus E, Morris AD, Palmer CNA, Nolte IM, Milaneschi Y, Marten J, Wright A, Zeggini E, Howson JMM, O'Donnell CJ, Spector T, Nalls MA, Simonsick EM, Liu Y, van Duijn CM, Butterworth AS, Danesh JN, Menni C, Wareham NJ, Khaw KT, Sun YV, Wilson PWF, Cho K, Visscher PM, Denny JC, Million Veteran Program, Lifelines Cohort Study, CHARGE consortium, ICBP Consortium, Levy D, Edwards TL, Munroe PB, Snieder H, Warren HR. |
| 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) |
|---|---|---|---|---|---|---|
| PGS004604 (DBP-meta-analysis) |
PGP000581 | Keaton JM et al. Nat Genet (2024) |
Diastolic blood pressure | diastolic blood pressure | 7,356,519 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004604/ScoringFiles/PGS004604.txt.gz |
| PGS004605 (PP-meta-analysis) |
PGP000581 | Keaton JM et al. Nat Genet (2024) |
Pulse pressure | pulse pressure measurement | 7,356,519 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004605/ScoringFiles/PGS004605.txt.gz |
| PGS004603 (SBP-meta-analysis) |
PGP000581 | Keaton JM et al. Nat Genet (2024) |
Systolic blood pressure | systolic blood pressure | 7,356,519 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004603/ScoringFiles/PGS004603.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 |
|---|---|---|---|---|---|---|---|---|---|
| PPM020762 | PGS004604 (DBP-meta-analysis) |
PSS011397| European Ancestry| 10,210 individuals |
PGP000581 | Keaton JM et al. Nat Genet (2024) |
Reported Trait: Diastolic blood pressure | — | — | R²: 0.1212 beta (high vs low tertile): 10.31 |
Age, Age2, Sex, BMI | — |
| PPM020763 | PGS004605 (PP-meta-analysis) |
PSS011397| European Ancestry| 10,210 individuals |
PGP000581 | Keaton JM et al. Nat Genet (2024) |
Reported Trait: Pulse pressure | — | — | R²: 0.073 beta (high vs low tertile): 10.04 |
Age, Age2, Sex, BMI | — |
| PPM020765 | PGS004604 (DBP-meta-analysis) |
PSS011396| African Ancestry| 21,843 individuals |
PGP000581 | Keaton JM et al. Nat Genet (2024) |
Reported Trait: Diastolic blood pressure | — | — | beta (high vs low tertile): 6.23 | Age, Age2, Sex, BMI | — |
| PPM020766 | PGS004605 (PP-meta-analysis) |
PSS011396| African Ancestry| 21,843 individuals |
PGP000581 | Keaton JM et al. Nat Genet (2024) |
Reported Trait: Pulse pressure | — | — | beta (high vs low tertile): 5.45 | Age, Age2, Sex, BMI | — |
| PPM020761 | PGS004603 (SBP-meta-analysis) |
PSS011397| European Ancestry| 10,210 individuals |
PGP000581 | Keaton JM et al. Nat Genet (2024) |
Reported Trait: Systolic blood pressure | — | — | R²: 0.1137 beta (high vs low tertile): 16.85 |
Age, Age2, Sex, BMI | — |
| PPM020764 | PGS004603 (SBP-meta-analysis) |
PSS011396| African Ancestry| 21,843 individuals |
PGP000581 | Keaton JM et al. Nat Genet (2024) |
Reported Trait: Systolic blood pressure | — | — | beta (high vs low tertile): 10.59 | Age, Age2, Sex, BMI | — |
|
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 |
|---|---|---|---|---|---|---|---|---|
| PSS011396 | the earliest median eligible non-Emergency Department outpatient measured SBP in the electronic health record, and the corresponding DBP. For individuals with an even number of SBP measures in their record, the lower value was used to compute the median. For individuals with fewer than three measurements available, the lowest available SBP and corresponding DBP were used. Measures were considered ineligible if they occurred at or after an ICD-9/10 billing code from the groups 585/N18 (chronic kidney disease), 405/I15 (secondary hypertension), or 428/I50 (heart failure). For participants who had started an antihypertensive medication before the date of their median SBP measurement, 15 mm Hg was added to SBP and 10 mm Hg to DBP. Eligible SBP measures were restricted to a range of 30 to 300 mmHg. Eligible DBP measures were restricted to values over 30 mmHg. Eligible DBP measures were restricted to values over 30 mmHg. Sample size for SBP, DBP, and PP GWAS analysis included 21,843 individuals. Pulse pressure was defined as SBP minus DBP. Hypertension status was defined by phecodes 401* and/or antihypertensive medication use. | — | 21,843 individuals, 42.69 % Male samples |
Mean = 48.3 years Sd = 14.75 years |
African American or Afro-Caribbean (American) |
— | AllofUs | — |
| PSS011397 | In Lifelines, BP was measured every minute during a period of ten minutes using an automated DINAMAP Monitor (GE Healthcare) and the average of the final three readings was recorded for SBP and DBP. Participants with a measured BP ≥140/90 mm Hg irrespective of treatment and those taking antihypertensive medication (ATC codes C02, C03, C07, C08, C09) irrespective of BP were defined as having hypertension. In continuous trait analyses, 15 mm Hg was added to SBP and 10 mm Hg was added to DBP for 1,236 individuals who were taking antihypertensive medication. PP was calculated using these medication-adjusted BP values. | — | 10,210 individuals, 41.6 % Male samples |
Mean = 44.66 years Sd = 13.05 years |
European (Dutch) |
— | LifeLines | — |