Impact of Polygenic Risk Scores on the Clinical Presentation and Glycaemic Variability of GCK-MODY

Patient Information

This report synthesizes clinical findings from a large-scale study involving 897 individuals clinically referred for GCK-MODY (glucokinase-maturity-onset diabetes of the young). The cohort represents a diverse group of patients typically presenting with lifelong, mild, stable fasting hyperglycaemia. For comparative analysis, the data also included 7,645 non-diabetic controls, 4,773 patients with Type 2 diabetes, and 601 participants with HNF1A-MODY. Additionally, 158 clinically unselected GCK variant carriers from the UK Biobank were evaluated to provide a population-based perspective. Clinical presentation typically involves an incidental finding of elevated blood glucose or HbA1c, often appearing early in life but occasionally remaining undiagnosed until routine screening.

Diagnosis

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