| Publication Information (EuropePMC) | |
| Title | Polygenic risk for triglyceride levels in the presence of a high impact rare variant. |
| PubMed ID | 37940981(Europe PMC) |
| doi | 10.1186/s12920-023-01717-2 |
| Publication Date | Nov. 8, 2023 |
| Journal | BMC Med Genomics |
| Author(s) | Ying S, Heung T, Thiruvahindrapuram B, Engchuan W, Yin Y, Blagojevic C, Zhang Z, Hegele RA, Yuen RKC, Bassett AS. |
| 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) |
|---|---|---|---|---|---|---|
| PGS001954 (portability-PLR_log_HDL) |
PGP000263 | Privé F et al. Am J Hum Genet (2022) |
HDL cholesterol | high density lipoprotein cholesterol measurement | 85,429 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001954/ScoringFiles/PGS001954.txt.gz |
| PGS001979 (portability-PLR_log_triglycerides) |
PGP000263 | Privé F et al. Am J Hum Genet (2022) |
Triglycerides | triglyceride measurement | 71,203 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001979/ScoringFiles/PGS001979.txt.gz |
| PGS001933 (portability-PLR_LDL) |
PGP000263 | Privé F et al. Am J Hum Genet (2022) |
LDL direct | low density lipoprotein cholesterol measurement | 25,604 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001933/ScoringFiles/PGS001933.txt.gz |
| PGS001895 (portability-PLR_cholesterol) |
PGP000263 | Privé F et al. Am J Hum Genet (2022) |
Cholesterol | total cholesterol measurement | 16,576 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001895/ScoringFiles/PGS001895.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 |
|---|---|---|---|---|---|---|---|---|---|
| PPM022462 | PGS001979 (portability-PLR_log_triglycerides) |
PSS011950| Multi-ancestry (including European)| 151 individuals |
PGP000716 | Ying S et al. BMC Med Genomics (2023) |Ext. |
Reported Trait: Triglycerides in 22q11.2 microdeletion carriers | β: 0.3133 (0.0804) | — | — | sex, age, BMI, T2D, Psychotic illness, Originating ascertainment cohort, Sequencing platform, PC1-4 | — |
| PPM022463 | PGS001954 (portability-PLR_log_HDL) |
PSS011950| Multi-ancestry (including European)| 151 individuals |
PGP000716 | Ying S et al. BMC Med Genomics (2023) |Ext. |
Reported Trait: HDLC in 22q11.2 microdeletion carriers | β: 0.3818 (0.0667) | — | — | sex, age, BMI, T2D, Psychotic illness, Originating ascertainment cohort, Sequencing platform, PC1-4 | — |
| PPM022464 | PGS001933 (portability-PLR_LDL) |
PSS011950| Multi-ancestry (including European)| 151 individuals |
PGP000716 | Ying S et al. BMC Med Genomics (2023) |Ext. |
Reported Trait: LDLC in 22q11.2 microdeletion carriers | β: 0.2524 (0.0839) | — | — | sex, age, BMI, T2D, Psychotic illness, Originating ascertainment cohort, Sequencing platform, PC1-4 | — |
| PPM022465 | PGS001895 (portability-PLR_cholesterol) |
PSS011950| Multi-ancestry (including European)| 151 individuals |
PGP000716 | Ying S et al. BMC Med Genomics (2023) |Ext. |
Reported Trait: Total cholesterol in 22q11.2 microdeletion carriers | β: 0.2494 (0.0851) | — | — | sex, age, BMI, T2D, Psychotic illness, Originating ascertainment cohort, Sequencing platform, PC1-4 | — |
|
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 |
|---|---|---|---|---|---|---|---|---|
| PSS011950 | Cohort of adults with a 22q11.2 microdeletion | — | 151 individuals, 50.0 % Male samples |
Median = 34.0 years | European, Not reported | — | NR | — |