| Publication Information (EuropePMC) | |
| Title | Genetic Modifiers of Cystic Fibrosis-Related Diabetes Have Extensive Overlap With Type 2 Diabetes and Related Traits. |
| PubMed ID | 31697830(Europe PMC) |
| doi | 10.1210/clinem/dgz102 |
| Publication Date | May 1, 2020 |
| Journal | J Clin Endocrinol Metab |
| Author(s) | Aksit MA, Pace RG, Vecchio-Pagán B, Ling H, Rommens JM, Boelle PY, Guillot L, Raraigh KS, Pugh E, Zhang P, Strug LJ, Drumm ML, Knowles MR, Cutting GR, Corvol H, Blackman SM. |
| 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) |
|---|---|---|---|---|---|---|
| PGS000869 (T1D_48) |
PGP000214 | Aksit MA et al. J Clin Endocrinol Metab (2020) |
Type 1 diabetes (T1D) | type 1 diabetes mellitus | 48 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000869/ScoringFiles/PGS000869.txt.gz |
| PGS000868 (T2D_221) |
PGP000214 | Aksit MA et al. J Clin Endocrinol Metab (2020) |
Type 2 diabetes (T2D) | type 2 diabetes mellitus | 221 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000868/ScoringFiles/PGS000868.txt.gz |
| PGS000870 (CFRD_18) |
PGP000214 | Aksit MA et al. J Clin Endocrinol Metab (2020) |
Cystic fibrosis related diabetes | complication | 18 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000870/ScoringFiles/PGS000870.txt.gz |
| PGS000871 (IS_14) |
PGP000214 | Aksit MA et al. J Clin Endocrinol Metab (2020) |
Insulin secretion | insulin secretion measurement | 14 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000871/ScoringFiles/PGS000871.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) |
|---|---|---|---|---|---|---|
| PGS000032 (GRSB) |
PGP000020 | Vassy JL et al. Diabetes (2014) |
Type 2 diabetes (based on SNPs involved in β-cell function) | type 2 diabetes mellitus | 20 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000032/ScoringFiles/PGS000032.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 |
|---|---|---|---|---|---|---|---|---|---|
| PPM002413 | PGS000868 (T2D_221) |
PSS001092| Ancestry Not Reported| 5,740 individuals |
PGP000214 | Aksit MA et al. J Clin Endocrinol Metab (2020) |
Reported Trait: Cystic-fibrosis related diabetes | HR: 1.285 | — | — | PCs(1-4), site of recruitment | — |
| PPM002414 | PGS000869 (T1D_48) |
PSS001092| Ancestry Not Reported| 5,740 individuals |
PGP000214 | Aksit MA et al. J Clin Endocrinol Metab (2020) |
Reported Trait: Cystic-fibrosis related diabetes | HR: 1.077 | — | — | PCs(1-4), site of recruitment | — |
| PPM002415 | PGS000032 (GRSB) |
PSS001092| Ancestry Not Reported| 5,740 individuals |
PGP000214 | Aksit MA et al. J Clin Endocrinol Metab (2020) |Ext. |
Reported Trait: Cystic-fibrosis related diabetes onset | HR: 1.192 | — | — | PCs(1-4), site of recruitment | — |
| PPM002416 | PGS000871 (IS_14) |
PSS001092| Ancestry Not Reported| 5,740 individuals |
PGP000214 | Aksit MA et al. J Clin Endocrinol Metab (2020) |
Reported Trait: Cystic-fibrosis related diabetes onset | HR: 1.247 | — | — | PCs(1-4), site of recruitment | — |
| PPM002417 | PGS000870 (CFRD_18) |
PSS001093| Ancestry Not Reported| 591 individuals |
PGP000214 | Aksit MA et al. J Clin Endocrinol Metab (2020) |
Reported Trait: Cystic-fibrosis related diabetes onset | HR: 1.35 | AUROC: 0.5798 | — | PCs(1-4) | — |
|
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 |
|---|---|---|---|---|---|---|---|---|
| PSS001092 | All individuals had cystic fibrosis with either 2 severe CFTR mutations and/or clinically diagnosed exocrine pancreatic insufficiency. Cases are individuals with cystic fibrosis related diabetes (CFRD).Phenotypes were obtained from extracted medical charts and CF Foundation Patient Registry through 2011. CFRD was defined by clinician diagnosis of diabetes plus insulin treatment for at least 1 year. The onset of CFRD was defined as the date at which insulin was started, if it was subsequently continued for at least 1 year. In approximately 50% of the participants, independent laboratory data (such as oral glucose tolerance test or hemoglobin A1c) were able to independently confirm the diagnosis of CFRD. Diabetes data were censored at the last clinic visit or date of solid organ transplant. | — | [ ,
47.04 % Male samples |
Mean = 20.0 years | Not reported | — | CGS, CWRU, FrGMC, JHU, UNC | — |
| PSS001093 | All individuals had cystic fibrosis with either 2 severe CFTR mutations and/or clinically diagnosed exocrine pancreatic insufficiency. Cases are individuals with cystic fibrosis related diabetes (CFRD).Phenotypes were obtained from extracted medical charts and CF Foundation Patient Registry through 2011. CFRD was defined by clinician diagnosis of diabetes plus insulin treatment for at least 1 year. The onset of CFRD was defined as the date at which insulin was started, if it was subsequently continued for at least 1 year. In approximately 50% of the participants, independent laboratory data (such as oral glucose tolerance test or hemoglobin A1c) were able to independently confirm the diagnosis of CFRD. Diabetes data were censored at the last clinic visit or date of solid organ transplant. | — | [ ,
54.82 % Male samples |
Mean = 22.7 years | Not reported | — | JHU | — |