Table 1

Participant characteristics

HNF1A mutation carriersControl subjectsDifference (P value)
Sex (male/female)4/64/6
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 ratio0.82 (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-IR1.4 (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.