Fig. 5: Unsolved MODY cases exhibit extreme T2D polygenic risk while phenotypically resembling typical MODY cases.
From: Common genetic variants modify disease risk and clinical presentation in monogenic diabetes
Distribution of key characteristics and polygenic risk across MODY carriers (orange, n = 1,462), T2D cases (blue, n = 4,773) and unsolved MODY cases (pink, n = 300). a,b, Distribution of the clinical characteristics BMI (a) and age at diabetes diagnosis (b), collected at patient referral. Box plots display the median and interquartile range, with individual data points overlaid. Statistical significance between groups is indicated; ***P < 0.017; NS, not significant, as determined by two-sided t-tests. c, Mean T2D polygenic risk across groups versus controls (n = 7,645), assessed using a two-sided linear regression model adjusting for the first ten within-cohort principal components. d, Mean polygenic risk score differences for diabetes-related traits in unsolved MODY cases versus controls, using the same method as in c. e, Adjusted ORs for unsolved MODY cases versus controls, assessed using a two-sided logistic regression model including each PGS, sex, age, BMI and the first ten within-cohort principal components as covariates. In d and e, asterisks denote Bonferroni-corrected significant differences from controls (P < 0.0056). In c–e, dots represent point estimates, with error bars representing 95% CIs.
