| Publication Information (EuropePMC) | |
| Title | Multi-ancestry GWAS of the electrocardiographic PR interval identifies 202 loci underlying cardiac conduction. |
| PubMed ID | 32439900(Europe PMC) |
| doi | 10.1038/s41467-020-15706-x |
| Publication Date | May 21, 2020 |
| Journal | Nat Commun |
| Author(s) | Ntalla I, Weng LC, Cartwright JH, Hall AW, Sveinbjornsson G, Tucker NR, Choi SH, Chaffin MD, Roselli C, Barnes MR, Mifsud B, Warren HR, Hayward C, Marten J, Cranley JJ, Concas MP, Gasparini P, Boutin T, Kolcic I, Polasek O, Rudan I, Araujo NM, Lima-Costa MF, Ribeiro ALP, Souza RP, Tarazona-Santos E, Giedraitis V, Ingelsson E, Mahajan A, Morris AP, Del Greco M F, Foco L, Gögele M, Hicks AA, Cook JP, Lind L, Lindgren CM, Sundström J, Nelson CP, Riaz MB, Samani NJ, Sinagra G, Ulivi S, Kähönen M, Mishra PP, Mononen N, Nikus K, Caulfield MJ, Dominiczak A, Padmanabhan S, Montasser ME, O'Connell JR, Ryan K, Shuldiner AR, Aeschbacher S, Conen D, Risch L, Thériault S, Hutri-Kähönen N, Lehtimäki T, Lyytikäinen LP, Raitakari OT, Barnes CLK, Campbell H, Joshi PK, Wilson JF, Isaacs A, Kors JA, van Duijn CM, Huang PL, Gudnason V, Harris TB, Launer LJ, Smith AV, Bottinger EP, Loos RJF, Nadkarni GN, Preuss MH, Correa A, Mei H, Wilson J, Meitinger T, Müller-Nurasyid M, Peters A, Waldenberger M, Mangino M, Spector TD, Rienstra M, van de Vegte YJ, van der Harst P, Verweij N, Kääb S, Schramm K, Sinner MF, Strauch K, Cutler MJ, Fatkin D, London B, Olesen M, Roden DM, Benjamin Shoemaker M, Gustav Smith J, Biggs ML, Bis JC, Brody JA, Psaty BM, Rice K, Sotoodehnia N, De Grandi A, Fuchsberger C, Pattaro C, Pramstaller PP, Ford I, Wouter Jukema J, Macfarlane PW, Trompet S, Dörr M, Felix SB, Völker U, Weiss S, Havulinna AS, Jula A, Sääksjärvi K, Salomaa V, Guo X, Heckbert SR, Lin HJ, Rotter JI, Taylor KD, Yao J, de Mutsert R, Maan AC, Mook-Kanamori DO, Noordam R, Cucca F, Ding J, Lakatta EG, Qian Y, Tarasov KV, Levy D, Lin H, Newton-Cheh CH, Lunetta KL, Murray AD, Porteous DJ, Smith BH, Stricker BH, Uitterlinden A, van den Berg ME, Haessler J, Jackson RD, Kooperberg C, Peters U, Reiner AP, Whitsel EA, Alonso A, Arking DE, Boerwinkle E, Ehret GB, Soliman EZ, Avery CL, Gogarten SM, Kerr KF, Laurie CC, Seyerle AA, Stilp A, Assa S, Abdullah Said M, Yldau van der Ende M, Lambiase PD, Orini M, Ramirez J, Van Duijvenboden S, Arnar DO, Gudbjartsson DF, Holm H, Sulem P, Thorleifsson G, Thorolfsdottir RB, Thorsteinsdottir U, Benjamin EJ, Tinker A, Stefansson K, Ellinor PT, Jamshidi Y, Lubitz SA, Munroe PB. |
| 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) |
|---|---|---|---|---|---|---|
| PGS000904 (PRS582_PR) |
PGP000236 | Ntalla I et al. Nat Commun (2020) |
PR interval | PR interval | 582 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000904/ScoringFiles/PGS000904.txt.gz |
| PGS000905 (PRS743_PR) |
PGP000236 | Ntalla I et al. Nat Commun (2020) |
PR interval | PR interval | 743 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000905/ScoringFiles/PGS000905.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 |
|---|---|---|---|---|---|---|---|---|---|
| PPM002674 | PGS000905 (PRS743_PR) |
PSS001175| European Ancestry| 309,269 individuals |
PGP000236 | Ntalla I et al. Nat Commun (2020) |
Reported Trait: Atrial fibrillation | OR: 0.94 β: -0.058 (0.009) |
— | — | Baseline age, sex, genotyping array, trait-related principal components | — |
| PPM002675 | PGS000905 (PRS743_PR) |
PSS001178| European Ancestry| 290,252 individuals |
PGP000236 | Ntalla I et al. Nat Commun (2020) |
Reported Trait: Distal conduction disease | β: 0.105 (0.019) OR: 1.11 |
— | — | Baseline age, sex, genotyping array, trait-related principal components | — |
| PPM002666 | PGS000904 (PRS582_PR) |
PSS001175| European Ancestry| 309,269 individuals |
PGP000236 | Ntalla I et al. Nat Commun (2020) |
Reported Trait: Atrial fibrillation | OR: 0.95 β: -0.047 (0.009) |
— | — | Baseline age, sex, genotyping array, trait-related principal components | Only 581 SNPs from the 582 SNP PRS were utilised. 1 SNP was not included due to low imputation quality. |
| PPM002667 | PGS000904 (PRS582_PR) |
PSS001178| European Ancestry| 290,252 individuals |
PGP000236 | Ntalla I et al. Nat Commun (2020) |
Reported Trait: Distal conduction disease | OR: 1.11 β: 0.103 (0.019) |
— | — | Baseline age, sex, genotyping array, trait-related principal components | Only 581 SNPs from the 582 SNP PRS were utilised. 1 SNP was not included due to low imputation quality. |
| PPM002668 | PGS000904 (PRS582_PR) |
PSS001176| European Ancestry| 309,041 individuals |
PGP000236 | Ntalla I et al. Nat Commun (2020) |
Reported Trait: Atrioventricular preexcitation | OR: 0.85 β: -0.168 (0.057) |
— | — | Baseline age, sex, genotyping array, trait-related principal components | Only 581 SNPs from the 582 SNP PRS were utilised. 1 SNP was not included due to low imputation quality. |
| PPM002669 | PGS000904 (PRS582_PR) |
PSS001179| European Ancestry| 309,241 individuals |
PGP000236 | Ntalla I et al. Nat Commun (2020) |
Reported Trait: Implantable cardioverter defibrillator | OR: 1.09 β: 0.086 (0.04) |
— | — | Baseline age, sex, genotyping array, trait-related principal components | Only 581 SNPs from the 582 SNP PRS were utilised. 1 SNP was not included due to low imputation quality. |
| PPM002670 | PGS000904 (PRS582_PR) |
PSS001180| European Ancestry| 309,246 individuals |
PGP000236 | Ntalla I et al. Nat Commun (2020) |
Reported Trait: Mitral valve prolapse | OR: 1.1 β: 0.093 (0.044) |
— | — | Baseline age, sex, genotyping array, trait-related principal components | Only 581 SNPs from the 582 SNP PRS were utilised. 1 SNP was not included due to low imputation quality. |
| PPM002671 | PGS000904 (PRS582_PR) |
PSS001181| European Ancestry| 305,471 individuals |
PGP000236 | Ntalla I et al. Nat Commun (2020) |
Reported Trait: Non-ischemic cardiomyopathy | OR: 0.95 β: -0.051 (0.024) |
— | — | Baseline age, sex, genotyping array, trait-related principal components | Only 581 SNPs from the 582 SNP PRS were utilised. 1 SNP was not included due to low imputation quality. |
| PPM002672 | PGS000904 (PRS582_PR) |
PSS001182| European Ancestry| 309,270 individuals |
PGP000236 | Ntalla I et al. Nat Commun (2020) |
Reported Trait: Pacemaker | OR: 1.06 β: 0.062 (0.016) |
— | — | Baseline age, sex, genotyping array, trait-related principal components | Only 581 SNPs from the 582 SNP PRS were utilised. 1 SNP was not included due to low imputation quality. |
| PPM002673 | PGS000904 (PRS582_PR) |
PSS001183| European Ancestry| 309,255 individuals |
PGP000236 | Ntalla I et al. Nat Commun (2020) |
Reported Trait: Valve disease | OR: 1.03 β: 0.03 (0.013) |
— | — | Baseline age, sex, genotyping array, trait-related principal components | Only 581 SNPs from the 582 SNP PRS were utilised. 1 SNP was not included due to low imputation quality. |
| PPM002676 | PGS000905 (PRS743_PR) |
PSS001176| European Ancestry| 309,041 individuals |
PGP000236 | Ntalla I et al. Nat Commun (2020) |
Reported Trait: Atrioventricular preexcitation | OR: 0.83 β: -0.191 (0.057) |
— | — | Baseline age, sex, genotyping array, trait-related principal components | — |
| PPM002677 | PGS000905 (PRS743_PR) |
PSS001177| European Ancestry| 309,246 individuals |
PGP000236 | Ntalla I et al. Nat Commun (2020) |
Reported Trait: Coronary artery disease | OR: 0.99 β: -0.014 (0.007) |
— | — | Baseline age, sex, genotyping array, trait-related principal components | — |
| PPM002678 | PGS000905 (PRS743_PR) |
PSS001182| European Ancestry| 309,270 individuals |
PGP000236 | Ntalla I et al. Nat Commun (2020) |
Reported Trait: Pacemaker | OR: 1.06 β: 0.056 (0.016) |
— | — | Baseline age, sex, genotyping array, trait-related principal components | — |
|
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 |
|---|---|---|---|---|---|---|---|---|
| PSS001175 | Cases were individuals with atrial fibrillation. Disease status was ascertained based on data from baseline interviews, hospital diagnosis codes (ICD-9 and ICD-10), cause of death codes (ICD-10), and operation codes. Details of individual selections and disease definitions are described in Supplementary Data 23. | — | [
|
— | European | — | UKB | — |
| PSS001176 | Cases were individuals with atrioventricular preexcitation. Disease status was ascertained based on data from baseline interviews, hospital diagnosis codes (ICD-9 and ICD-10), cause of death codes (ICD-10), and operation codes. Details of individual selections and disease definitions are described in Supplementary Data 23. | — | [
|
— | European | — | UKB | — |
| PSS001177 | Cases were individuals with congential artery disease. Disease status was ascertained based on data from baseline interviews, hospital diagnosis codes (ICD-9 and ICD-10), cause of death codes (ICD-10), and operation codes. Details of individual selections and disease definitions are described in Supplementary Data 23. | — | [
|
— | European | — | UKB | — |
| PSS001178 | Cases were individuals with distal conduction disease. Disease status was ascertained based on data from baseline interviews, hospital diagnosis codes (ICD-9 and ICD-10), cause of death codes (ICD-10), and operation codes. Details of individual selections and disease definitions are described in Supplementary Data 23. | — | [
|
— | European | — | UKB | — |
| PSS001179 | Cases were individuals with implantable cardioverter defibrillators. Disease status was ascertained based on data from baseline interviews, hospital diagnosis codes (ICD-9 and ICD-10), cause of death codes (ICD-10), and operation codes. Details of individual selections and disease definitions are described in Supplementary Data 23. | — | [
|
— | European | — | UKB | — |
| PSS001180 | Cases were individuals with mitral valve prolapse. Disease status was ascertained based on data from baseline interviews, hospital diagnosis codes (ICD-9 and ICD-10), cause of death codes (ICD-10), and operation codes. Details of individual selections and disease definitions are described in Supplementary Data 23. | — | [
|
— | European | — | UKB | — |
| PSS001181 | Cases were individuals with non-ischemic cardiomyopathy. Disease status was ascertained based on data from baseline interviews, hospital diagnosis codes (ICD-9 and ICD-10), cause of death codes (ICD-10), and operation codes. Details of individual selections and disease definitions are described in Supplementary Data 23. | — | [
|
— | European | — | UKB | — |
| PSS001182 | Cases were individuals with a pacemaker. Disease status was ascertained based on data from baseline interviews, hospital diagnosis codes (ICD-9 and ICD-10), cause of death codes (ICD-10), and operation codes. Details of individual selections and disease definitions are described in Supplementary Data 23. | — | [
|
— | European | — | UKB | — |
| PSS001183 | Cases were individuals with valve disease. Disease status was ascertained based on data from baseline interviews, hospital diagnosis codes (ICD-9 and ICD-10), cause of death codes (ICD-10), and operation codes. Details of individual selections and disease definitions are described in Supplementary Data 23. | — | [
|
— | European | — | UKB | — |