Affected gene | CP kinetics | BG kinetics | ||||||
AUC, pmol/L/180 min | CPBase, pmol/L | CPmax, pmol/L | CPAve, pmol/L | AUC, mmol/L/180 min | BGBase, mmol/L | BGmax, mmol/L | BGAve, mmol/L | |
1. /RFX2 | 81 | 1 | 30 | 10.2 | 152 | 9.7 | 25.2 | 18.8 |
2. /RREB1 | 580 | 21 | 109 | 70.3 | 106 | 7.3 | 16.8 | 13 |
3. /SLC5A1 | 44 | 3 | 17 | 6 | 128 | 9.6 | 20.6 | 15.7 |
4. /GCKR | 383 | 38 | 68 | 47.6 | 105 | 6.9 | 17.8 | 12.9 |
5. /MC4R | 3702 | 287 | 585 | 451.3 | 94 | 7.8 | 14.1 | 11.5 |
6. /CASP10 | 2952 | 311 | 471 | 348.2 | 37 | 4.7 | 4.9 | 4.7 |
7. /TMPRSS6 | 1159 | 52 | 258 | 144.6 | 129 | 12 | 19.6 | 15.9 |
8. /HGFAC | 4432 | 302 | 830 | 531.2 | 119 | 6.8 | 19.7 | 14.6 |
9. /DACH1 | 37 | 2 | 12 | 5 | 87 | 7 | 22.2 | 11.3 |
10. /SLC5A1* | 4201 | 253 | 725 | 515.7 | 105 | 8.3 | 17.3 | 13.1 |
11. /ZBED3 | 42 | 1 | 14 | 5.8 | 113 | 8.2 | 18.8 | 14 |
12. /SLC5A1* | 256 | 17 | 69 | 32.3 | 118 | 8.1 | 20.8 | 14.7 |
Probands with CPmax >200 pmol/L are in bold.
*The same DNA change in SLC5A1 gene, probands are siblings.
AUC, area under the curve; BG, blood glucose; BGAve, the average of blood glucose; BGBase, the baseline level of blood glucose; BGmax, the peak of blood glucose; CP, C-peptide; CPAve, the average of C-peptide; CPBase, the baseline level of C-peptide; CPmax, the peak of C-peptide; MMTT, mixed meal tolerance test.