PGS Publication: PGP000214

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.
Released in PGS Catalog: Aug. 26, 2021

Associated Polygenic Score(s)

Filter PGS by Participant Ancestry
Individuals included in:
G - Source of Variant Associations (GWAS)
D - Score Development/Training
E - PGS Evaluation
List of ancestries includes:
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South Asian
Additional Asian Ancestries
European
Greater Middle Eastern
Hispanic or Latin American
Additional Diverse Ancestries
Not Reported

PGS Developed By This Publication

Polygenic Score ID & Name PGS Publication ID (PGP) Reported Trait Mapped Trait(s) (Ontology) Number of Variants Ancestry distribution Scoring File (FTP Link)
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
PGS000868
(T2D_221)
PGP000214 |
Aksit MA et al. J Clin Endocrinol Metab (2020)
Type II diabetes type II diabetes mellitus 221
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000868/ScoringFiles/PGS000868.txt.gz
PGS000869
(T1D_48)
PGP000214 |
Aksit MA et al. J Clin Endocrinol Metab (2020)
Type I diabetes type I diabetes mellitus 48
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000869/ScoringFiles/PGS000869.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

External PGS Evaluated By This Publication

Polygenic Score ID & Name PGS Publication ID (PGP) Reported Trait Mapped Trait(s) (Ontology) Number of Variants Ancestry distribution 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 II diabetes mellitus 20
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000032/ScoringFiles/PGS000032.txt.gz

Performance Metrics

Disclaimer: The performance metrics are displayed as reported by the source studies. It is important to note that metrics are not necessarily comparable with each other. For example, metrics depend on the sample characteristics (described by the PGS Catalog Sample Set [PSS] ID), phenotyping, and statistical modelling. Please refer to the source publication for additional guidance on performance.

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)

Evaluated 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
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.
[
  • 1,341 cases
  • , 4,399 controls
]
,
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.
[
  • 204 cases
  • , 387 controls
]
,
54.82 % Male samples
Mean = 22.7 years Not reported JHU