Polygenic Score (PGS) ID: PGS000870

Predicted Trait
Reported Trait Cystic fibrosis related diabetes
Mapped Trait(s) complication (EFO_0009518)
Released in PGS Catalog: Aug. 26, 2021
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Score Details

Score Construction
PGS Name CFRD_18
Development Method
Name 3 genome-wide significant variants and 15 variants with FDR >0.1 in T2D_221 and PGS000032
Parameters NR
Variants
Original Genome Build hg19
Number of Variants 18
Effect Weight Type log(HR)
PGS Source
PGS Catalog Publication (PGP) ID PGP000214
Citation (link to publication) Aksit MA et al. J Clin Endocrinol Metab (2020)
Ancestry Distribution
Source of Variant
Associations (GWAS)
Not Reported: 100%
5,740 individuals (100%)
PGS Evaluation
Not Reported: 100%
1 Sample Sets

Development Samples

Source of Variant Associations (GWAS)
Study Identifiers Sample Numbers Sample Ancestry Cohort(s)
Europe PMC: 31697830
[
  • 1,341 cases
  • , 4,399 controls
]
,
47.04 % Male samples
 Not reported CGS, CWRU, FrGMC, JHU, UNC

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) 		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
PPM002417 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
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 —