The role of SLC19A2 variants in the wide spectrum of non-autoimmune abnormalities of glucose homeostasis
Authors' conclusion
Taken together with previous evidence, these data indicate that SLC19A2 variability modulates glucose homeostasis, from recessive syndromic diabetes, to autosomal dominant mild hyperglycaemia, to type 2 diabetes.
Study context
- Population
- Two probands with mild hyperglycaemia and their pedigrees; 191,140 UK Biobank samplesUK Biobank
- Participants
- 191,140 probands
- Exposure
- Carriers of SLC19A2 heterozygous variants vs non-carriers
- Outcome
- SLC19A2 heterozygous variants in mild hyperglycaemia pedigrees and T2D
Methodological detailswhole exome sequencing, family-based and population-based
- Whole exome sequencing
- Family-based and population-based
Main finding
As reported in the abstract
- Carriers of an additional variant in a monogenic diabetes gene (PDX1, KCNJ11): anticipation of disease onset
- 25-31 years
- 12 rare null SLC19A2 variants associated with T2D, UK Biobank: OR 3.7 (95% CI 1.3, 227)
- p=0.00033
- 12 rare null SLC19A2 variants associated with increased HbA1c, UK Biobank: effect [π]=2.2 ± 0.92
- p=0.019
Observational data: associations, not effects.
Original publication
The role of SLC19A2 variants in the wide spectrum of non-autoimmune abnormalities of glucose homeostasis. Diabetologia. Published 2 July 2025. doi:10.
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