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Observational analysis reveals that polygenic factors modify glycaemic expression in GCK-MODY, suggesting a need for integrated genetic understanding.
Our findings suggest that polygenic background and GCK variants interact to modify the glycaemic expression of GCK-MODY, influencing clinical diagnosis despite high penetrance. The pattern of polygenic contribution differs from that of HNF1A-MODY, highlighting the aetiology specific interaction. Our study highlights the importance of integrating both monogenic and polygenic factors to better understand phenotypic variability in monogenic diseases.
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Leech et al. (2026) studied this question.
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