Human leukocyte antigen (HLA)-guided identification of monogenic diabetes in antibody-negative type 1 diabetes: frequency and characteristics
Authors' conclusion
In antibody-negative T1D, MODY and mitochondrial diabetes accounted for 2.5% and 1.7%, respectively. HLA genotype was the key distinguishing factor. Persistent C-peptide secretion in monogenic diabetes supports the need for genetic screening in antibody-negative T1D patients.
Study context
- Population
- Antibody-negative T1D patients from a clinically diagnosed T1D cohort
- Participants
- 482 patients
- Outcome
- Prevalence of monogenic diabetes (MODY, mitochondrial diabetes) in antibody-negative T1D
Methodological detailstargeted sequencing with custom 36-gene panel and mitochondrial 3243 A > G mutation
- Targeted sequencing with custom 36-gene panel and mitochondrial 3243 A > G mutation
Main finding
As reported in the abstract
Prevalence of monogenic diabetes
Maturity-onset diabetes of the young (MODY)
2.5%
12/482
Mitochondrial diabetes
1.7%
8/482
Observational data: associations, not effects.
Further findings
Prevalence by HLA haplotype and age at onset
- MODY in childhood-onset patients with a single susceptible HLA haplotype
- 11.1% (6/54)
- Mitochondrial diabetes in adult-onset patients lacking HLA-susceptible haplotypes
- 6.2% (7/113)
Characteristics vs "truly" antibody-negative T1D
- MODY: earlier onset; mitochondrial diabetes: later onset, higher 2hCP, fewer HLA-susceptible haplotypes
- all P < 0.05
- Gender, age at diagnosis, HbA1c, 2hCP and family history of diabetes showed no significant differences
Random C-peptide > 100 pmol/L in recalled monogenic diabetes patients · median 15.7 years
- Retained random C-peptide > 100 pmol/L
- 62.5% (5/8)
Original publication
HLA-guided identification of monogenic diabetes in antibody-negative type 1 diabetes: frequency and characteristics. Diabetes Metab. Published 10 February 2026. doi:10.
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