Table 2 Clinical characteristics of the patients with rare GCK missense variants identified in the Pinggu cohort
Individual no. | 01-01a | 02-01a | 03-01a | 04-01a | 05-01a | 06-01a | 07-01a | 08-01a | 12-01b | 13-01b | 14-01b | 15-01c |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
Variants | Thr82Pro | Arg377Leu | Gly44Ser | Ala259Ser | Arg43His | Arg250Cys | Gly44Ser | Thr354Met | Asp135Glu | Thr354Met | Asp135Glu | Gly318Arg |
Age at recruitment, years | 52 | 62 | 72 | 47 | 28 | 59 | 39 | 48 | 65 | 58 | 61 | 32 |
Age at diagnosis, years | 52 | 62 | 72 | 47 | 28 | 59 | 39 | 48 | 64 | 57 | 45 | N |
Therapy | N | N | N | N | N | N | N | N | OHA + insulin | OHA | Insulin | N |
Gender | Male | Male | Male | Female | Male | Female | Female | Male | Female | Female | Male | Female |
Family history | N | Y | N | Y | N | N | Y | N | N | N | N | N |
History of hypertension | Y | Y | N | N | N | Y | N | N | N | N | N | N |
BMI, kg/m2 | 23.1 | 24.7 | 23.1 | 27.4 | 29.9 | 40.8 | 23.2 | 31.8 | 25.1 | 28.1 | 26.0 | 23.0 |
Waist circumference, cm | 78.0 | 85.7 | 85.5 | 91.0 | 104.0 | 120.9 | 69.0 | 110.0 | 84.0 | 88.0 | 98.0 | 82.0 |
Blood pressure, mmHg | 139/89 | 146/87 | 105/59 | 150/100 | 124/81 | 180/119 | 123/77 | 140/100 | 150/100 | 140/80 | 120/78 | 106/84 |
FPG, mmol/L | 7.07 | 6.67 | 6.65 | 6.69 | 7.64 | 9.80 | 7.85 | 13.66 | 7.55 | 7.77 | 5.27 | 5.51 |
2-h PG, mmol/L | 8.72 | 10.55 | 9.51 | 10.19 | 7.69 | 17.65 | 12.98 | 21.02 | - | - | - | 4.97 |
2-h glucose increment, mmol/L | 1.65 | 3.88 | 2.86 | 3.50 | 0.05 | 7.85 | 5.13 | 7.36 | - | - | - | –0.54 |
HbA1c, % (mmol/mol) | 6.2 (44) | 6.9 (52) | 6.7 (50) | 7.2 (55) | 6.1 (43) | 7.8 (62) | 7.0 (53) | 9.2 (77) | 6.5 (48) | 7.6 (60) | 9.3 (78) | 5.8 (40) |
GA, % | 17.6 | 18.1 | 18.3 | 17.3 | 16.9 | 23.2 | 18.4 | 27.4 | 17.1 | 20.3 | 23.0 | 14.5 |
Fins, pmol/L | 10.70 | 28.20 | 39.93 | 87.85 | 66.39 | 148.69 | 22.57 | 183.90 | 111.40 | 52.09 | 485.66 | 68.89 |
Pins, pmol/L | 36.18 | 294.54 | 198.77 | 507.75 | 179.32 | 421.42 | 87.78 | 356.28 | - | - | - | 451.7 |
TC, mmol/L | 4.94 | 5.67 | 3.90 | 4.35 | 3.73 | 5.23 | 4.90 | 3.96 | 6.62 | 4.61 | 4.67 | 3.95 |
TG, mmol/L | 1.20 | 0.82 | 0.47 | 1.15 | 0.51 | 1.10 | 0.59 | 2.14 | 4.01 | 2.18 | 2.12 | 0.42 |
LDL-c, mmol/L | 1.94 | 2.85 | 2.01 | 2.50 | 1.97 | 2.85 | 3.37 | 2.07 | 3.31 | 2.63 | 2.19 | 2.31 |
HDL-c, mmol/L | 2.04 | 1.85 | 1.10 | 0.93 | 1.09 | 1.41 | 1.01 | 0.69 | 1.03 | 0.89 | 0.82 | 1.09 |
UA, µmol/L | 296 | 275 | 262 | 170 | 329 | 362 | 240 | 342 | 214 | 263 | 253 | 222 |
CRE, µmol/L | 57 | 88 | 66 | 45 | 75 | 67 | 48 | 66 | 65 | 43 | 73 | 41 |
ACR, mg/g | 7.59 | 331.23 | 7.40 | 98.44 | 0.05 | 1162.92 | 2.84 | 14.73 | 13.75 | 39.44 | 0.84 | 0.32 |