Utility of Polygenic Scores for Differentiating Diabetes Diagnosis Among Patients With Atypical Phenotypes of Diabetes
Authors' conclusion
PGST1D and PGST2D can be used to discriminate classic T1D and T2D and have potential clinical utility for differentiating these 2 types of diseases among patients with atypical diabetes.
Study context
- Population
- Patients diagnosed with diabetes in the UK Biobank: 464 (1%) classic T1D, 15,923 (38%) classic T2D and 25,400 (61%) atypical diabetes
- Participants
- 41,787 patients
- Comparison
- PGSs for T1D (PGST1D) plus PGST2D vs PGST1D alone vs PGST2D alone for differentiating T1D and T2D
- Outcome
- Validity of PGSs in differentiating classic T1D or T2D (C statistic)
Methodological detailsUK Biobank
- UK Biobank
Performance
As reported in the abstract
C statistic for differentiating classic T1D or T2D
| Test or model | Value | C statistic |
|---|---|---|
| PGST1D + PGST2D | 0.91 | 0.91 |
| PGST1D | 0.88 | 0.88 |
| PGST2D | 0.70 | 0.70 |
Value
PGST1D + PGST2D0.91
PGST1D0.88
PGST2D0.70
C statistic
PGST1D + PGST2D0.91
PGST1D0.88
PGST2D0.70
- PGST1D + PGST2D vs PGST1D: P less than .001 — significantly higher with joint PGSs
- PGST1D + PGST2D vs PGST2D: P less than .001 — significantly higher with joint PGSs
Further findings
Atypical diabetes with higher probability of T1D (optimal GenProb-T1D cutoff)
- Atypical diabetes patients with higher probability of T1D
- 23%
- Validity independently supported by clinical presentations characteristic of T1D
Original publication
Utility of Polygenic Scores for Differentiating Diabetes Diagnosis Among Patients With Atypical Phenotypes of Diabetes. J Clin Endocrinol Metab. Published 10 August 2023. doi:10.
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