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Digenic HNF1A and ABCC8 Variants Provide Mechanistic Insight into Early-Onset Diabetes | Synapse

April 25, 2026

Digenic HNF1A and ABCC8 Variants Provide Mechanistic Insight into Early-Onset Diabetes

Key Points

This research aims to clarify the genetic mechanisms of early-onset diabetes, specifically examining HNF1A and ABCC8 variants.
Characterized the functional impact of HNF1A and ABCC8 variants.
Assessed the role of intrauterine hyperglycemia in disease onset.
Investigated digenic inheritance patterns in early-onset diabetes.
Identified pathogenic variants contributing to early-onset diabetes.
Demonstrated the additive effects of HNF1A and ABCC8 on disease onset.
Provided evidence for oligogenic contributions to maturity-onset diabetes of the young (MODY).

Abstract

Functional characterization distinguishes pathogenic from variants of unknown significance and supports digenic inheritance of HNF1A and ABCC8. Their additive effects, together with intrauterine hyperglycemia, likely accelerated disease onset. This study provides mechanistic evidence for oligogenic contributions to MODY and expands the genetic architecture of early-onset diabetes.

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Honda et al. (Tue,) studied this question.

synapsesocial.com/papers/69ec5b2388ba6daa22dacaac https://doi.org/https://doi.org/10.1210/clinem/dgag183

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