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. 2023 Sep 30;14:6119. doi: 10.1038/s41467-023-41860-z

Fig. 1. Reduced pancreatic beta cell function in participants carrying diabetes-associated PAX4 variants.

Fig. 1

a, b Mean age and BMI of heterozygous and homozygous carriers of p.His192 PAX4 allele (n = 62) and homozygous p.Arg192Arg controls (n = 121) who underwent frequently sampled intravenous glucose tolerance tests to measure Acute Insulin Response to glucose (AIRg), insulin sensitivity (Si), disposition index (DI), and HOMA-B. Unadjusted p-value or adjusted p-value (adjusted for age, sex, and BMI) are indicated in the table for AIRg, Si, DI, and HOMA-B. *AIRg, Si, Disposition index and HOMA-B values were obtained by back-transforming Log10 values of the model-estimated means for controls and carriers. c, d Plasma glucose level (mg/dL) at the (c) fasting and (d) 2-hour time points during the oral glucose tolerance test (OGTT) of heterozygous or homozygous p.Arg192His carriers (n = 29) and p.Arg192Arg controls (n = 28). e Ratio of area under the curve (AUC) insulin to glucose during the 2-hour oral glucose tolerance test. f Family pedigree of a Singaporean family with a novel p.Tyr186X PAX4 variant. NN, wild-type; NM, heterozygotes; −/−, genotype not accessible. An arrow indicates the proband (III-1). Age of diagnosis for diabetes mellitus (DM), gestational diabetes mellitus (GDM), ischemic heart disease (IHD), coronary artery bypass grafting (CABG), impaired glucose tolerance (IGT), permanent pace-maker implantation (PPM), chronic renal failure (CRF), and diabetic retinopathy (DR). g Summary of measures of beta cell function between family members in (f) during a 2-h 75 g glucose oral glucose tolerance test. Carriers of the p.X186 allele are in bold. HbA1c, hemoglobin A1c; HOMA-IR, homeostatic model assessment of insulin resistance (value > 2 indicates insulin resistance); DI, disposition index (Matsuda); ND, not done. Data are presented as mean ± SEM in (b–d). Statistical analyses were performed using two-tailed unpaired t test. *p < 0.05, **p < 0.01. Source data is provided in the Source Data File.