| Publication Information (EuropePMC) | |
| Title | Transferability of Ancestry-Specific and Cross-Ancestry CYP2A6 Activity Genetic Risk Scores in African and European Populations. |
| PubMed ID | 33300144(Europe PMC) |
| doi | 10.1002/cpt.2135 |
| Publication Date | Jan. 1, 2021 |
| Journal | Clin Pharmacol Ther |
| Author(s) | El-Boraie A, Chenoweth MJ, Pouget JG, Benowitz NL, Fukunaga K, Mushiroda T, Kubo M, Nollen NL, Sanderson Cox L, Lerman C, Knight J, Tyndale RF. |
| 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) |
|---|---|---|---|---|---|---|
| PGS004922 (wGRS_AFR) |
PGP000655 | El-Boraie A et al. Clin Pharmacol Ther (2021) |
Nicotine metabolite ratio | nicotine metabolite ratio | 12 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004922/ScoringFiles/PGS004922.txt.gz |
| 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) |
|---|---|---|---|---|---|---|
| PGS004909 (EUR_wGRS7) |
PGP000641 | El-Boraie A et al. Addict Biol (2019) |
Nicotine metabolite ratio | nicotine metabolite ratio | 8 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004909/ScoringFiles/PGS004909.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 |
|---|---|---|---|---|---|---|---|---|---|
| PPM021405 | PGS004922 (wGRS_AFR) |
PSS011734| African Ancestry| 216 individuals |
PGP000655 | El-Boraie A et al. Clin Pharmacol Ther (2021) |
Reported Trait: Nicotine metabolite ratio | — | — | R²: 0.343 | — | Log transformed nicotine metabolite ratio |
| PPM021406 | PGS004922 (wGRS_AFR) |
PSS011734| African Ancestry| 216 individuals |
PGP000655 | El-Boraie A et al. Clin Pharmacol Ther (2021) |
Reported Trait: Nicotine metabolite ratio | — | — | R²: 0.393 | Sex, age, body mass index | Log transformed nicotine metabolite ratio |
| PPM021407 | PGS004922 (wGRS_AFR) |
PSS011734| African Ancestry| 216 individuals |
PGP000655 | El-Boraie A et al. Clin Pharmacol Ther (2021) |
Reported Trait: Nicotine metabolism (slow vs normal) | — | AUROC: 0.77 [0.71, 0.84] | — | — | CYP2A6 Slow metabolisers = NMR <0.31, CYP2A6 normal metabolisers = NMR ≥0.31 |
| PPM021408 | PGS004922 (wGRS_AFR) |
PSS011733| Multi-ancestry (including European)| 1,187 individuals |
PGP000655 | El-Boraie A et al. Clin Pharmacol Ther (2021) |
Reported Trait: Nicotine metabolite ratio | — | — | R²: 0.3 | — | Log transformed nicotine metabolite ratio, 50.6% overlap with score development and testing samples |
| PPM021409 | PGS004909 (EUR_wGRS7) |
PSS011733| Multi-ancestry (including European)| 1,187 individuals |
PGP000655 | El-Boraie A et al. Clin Pharmacol Ther (2021) |Ext. |
Reported Trait: Nicotine metabolite ratio | — | — | R²: 0.261 | — | Log transformed nicotine metabolite ratio, 49.4% overlap with score development and testing 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 |
|---|---|---|---|---|---|---|---|---|
| PSS011733 | Participants were smokers. | — | 1,187 individuals | — | African American or Afro-Caribbean, Sub-Saharan African, European | African American or Afro-Caribbean and Sub-Saharan African = 954, European = 933 | KIS3, PNAT2 | — |
| PSS011734 | Combination of heavy and light smokers. | — | [
|
— | African unspecified | — | Q2L | — |