Table 1.
Participant characteristics
| HNF1A mutation carriers | Control subjects | Difference (P value) | |
|---|---|---|---|
| Sex (male/female) | 4/6 | 4/6 | |
| Age (years) | 35.3 (8.1) | 33.9 (8.0) | |
| Weight (kg) | 67.4 (7.0) | 67.9 (14.3) | |
| Height (m) | 1.74 (0.1) | 1.74 (0.1) | |
| BMI (kg/m2) | 22.4 (1.5) | 22.2 (2.4) | |
| Waist circumference (cm) | 76.3 (7.3) | 76.2 (7.2) | 0.9757 |
| Hip circumference (cm) | 93.5 (4.6) | 90.7 (8.0) | 0.3495 |
| Waist-to-hip ratio | 0.82 (0.08) | 0.85 (0.08) | 0.4684 |
| HbA1c (%) | 6.0 (0.6) | 5.1 (0.3) | <0.0001 |
| HbA1c (mmol/mol) | 42.3 (6.1) | 31.9 (2.9) | <0.0001 |
| Fasting plasma glucose (mmol/L) | 6.6 (2.1) | 5.1 (0.4) | 0.0113 |
| HOMA-IR | 1.4 (0.6) | 1.4 (0.6) | 0.7972 |
| Patients with diabetes (%)* | 80 (n = 8) | ||
| Diabetes duration (years)† | 18 (6) | ||
| Complications | |||
| Retinopathy (%) | 40 (n = 4) | ||
| Neuropathy (%) | 10 (n = 1) | ||
| Treatment | |||
| Diet (%) | 30 (n = 3) | ||
| Glimepiride (%) | 30 (n = 3) | ||
| Glimepiride + linagliptin (%) | 10 (n = 1) | ||
| Glimepiride + liraglutide (%) | 10 (n = 1) | ||
| Linagliptin (%) | 10 (n = 1) | ||
| Repaglinide + metformin (%) | 10 (n = 1) | ||
Data are mean (SD) unless otherwise indicated. Participants were matched according to sex, age, and BMI. Participants met fasting (10 h) without morning medication on screening day. Diabetes is defined as HbA1c ≥48 mmol/mol (n = 7) or prior gestational diabetes mellitus (n = 1) diagnosed with an oral glucose tolerance test.
HOMA-IR, HOMA of insulin resistance.
*
Two HNF1A mutation carriers had never presented an HbA1c ≥48 mmol/mol.
†
HNF1A mutation carriers treated with glucose-lowering agents only.