An alternative approach using hs‐CRP levels and age of onset in diagnostics of HNF1A‐MODY
Authors' conclusion
Hs-CRP value and age of DM onset could be an alternative approach to current diagnostic criteria with a potential to increase the diagnostic rate of HNF1A-MODY.
Study context
- Population
- Diabetic cohort (T1D or T2D), Slovakia50 genotyped
- Participants
- 3,537 participants
- Outcome
- Identification of HNF1A-MODY
Methodological detailsgenetic screening, functional characterization of variants
- Genetic screening
- Functional characterization of variants
Performance
As reported in the abstract
| Test or model | PPV |
|---|---|
| hs-CRP ≤0.25 mg/L | 4.0% (95% CI 0.7%, 13.5%) |
hs-CRP ≤0.25 mg/L
PPV4.0% (95% CI 0.7%, 13.5%)
- Participants with a rare HNF1A variant
- 3
- Likely pathogenic variants: c.1369_1384dup (p.Val462Aspfs*92) and c.737T>G (p.Val246Gly)
- 2
- Likely benign variant: c.1573A>T (p.Thr525Ser)
- 1
- Estimated minimal HNF1A-MODY prevalence in Slovakia
- 0.057%
Further findings
Functional studies of missense variants
- p.Val246Gly HNF1α transactivation activity, % of wild-type
- ≈59%
- p.Val246Gly DNA binding ability, % of wild-type
- ≈16%
- p.Thr525Ser: no effect on transactivation activity, DNA binding, nor nuclear localization
Original publication
An alternative approach using hs‐CRP levels and age of onset in diagnostics of HNF1A‐MODY. Diabet Med. Published 13 December 2023. doi:10.
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