Table 1.
Characteristics of the carriers and non-carriers of HNF1A p.(Gly292fs)
| Characteristic | Carriers | Non-carriers | Statistics | |||||||
|---|---|---|---|---|---|---|---|---|---|---|
| Result | Age at investigation | n (% female) | Result | Age at investigation | n (% female) | MWU estimator | 95% CI | p value | LM estimatea | |
| HbA1c (mmol/mol) | 51 [41–63] | 39 [30–55] | 113 (51) | 36 [32–39] | 41 [30–54] | 100 (43) | 15.2 | 11.2, 18.6 | 8.9 × 10−21 | 18 |
| HbA1c (%) | 6.8 [5.9–7.9] | 5.4 [5.1–5.7] | ||||||||
| Fasting valuesb | ||||||||||
| Glucose (mmol/l) | 7.0 [5.2–9.4] | 38 [29–54] | 115 (51) | 5.4 [5.2–5.8] | 42 [31–55] | 120 (46) | 1.5 | 0.9, 2.2 | 1.6 × 10−8 | 2.3 |
| Insulin (pmol/l) | 29 [17–46] | 39 [29–54] | 113 (51) | 34 [21–50] | 43 [31–55] | 118 (46) | −4.4 | −9.5, 0.5 | 0.075 | −4.6 |
| C-peptide (nmol/l) | 0.30 [0.19–0.45] | 38 [30–54] | 99 (51) | 0.36 [0.17–0.55] | 41 [30–57] | 97 (45) | 0.0 | −0.1, 0 | 0.24 | −0.065 |
| Insulin:C-peptide | 95 [63–128] | 40 [30–54] | 98 (50) | 117 [78–228] | 41 [30–57] | 96 (46) | −23 | −41, −5 | 0.010 | (−41)c |
| Proinsulin (pmol/l) | 3.9 [2.8–7.3] | 48 [31–62] | 58 (55) | 6.7 [3.6–14.8] | 53 [38–65] | 45 (33) | −2.4 | −4.5, −0.7 | 0.0044 | −5.9 |
| OGTT glucose (mmol/l) | ||||||||||
| 0 min | 6.2 [5.1–7.5] | 36 [28–47] | 72 (54) | 5.4 [5.1–5.8] | 42 [32–54] | 107 (47) | 0.7 | 0.3, 1.2 | 0.00066 | 1.1 |
| 30 min | 10.3 [8.8–12.7] | 36 [28–49] | 74 (54) | 8.3 [7.4–9.2] | 42 [32–53] | 108 (46) | 2.2 | 1.5, 3.0 | 1.3 × 10−9 | 2.6 |
| 60 min | 13.2 [9.8–16.5] | 36 [29–49] | 74 (54) | 7.5 [6.3–9.8] | 42 [32–53] | 108 (46) | 5.3 | 4.1, 6.5 | 9.6 × 10−16 | 5.6 |
| 90 min | 14.9 [9.6–18.0] | 40 [30–52] | 59 (54) | 6.2 [5.0–7.9] | 44 [32–55] | 75 (47) | 7.70 | 5.8, 9.4 | 2.4 × 10−13 | 7.5 |
| 120 min | 11.3 [8.6–16.7] | 36 [28–47] | 72 (54) | 5.8 [5.0–7.0] | 42 [32–54] | 107 (47) | 5.6 | 4.3, 7.5 | 5.0 × 10−17 | 6.9 |
| OGTT insulin (pmol/l) | ||||||||||
| 0 min | 27 [16–35] | 36 [27–51] | 70 (53) | 34 [20–49] | 43 [32–54] | 106 (47) | −7 | −13, −2 | 0.0057 | −10 |
| 30 min | 100 [51–144] | 36 [27–51] | 70 (53) | 278 [171–437] | 42 [32–54] | 107 (47) | −177 | −228, −133 | 5.7 × 10−17 | −229 |
| 60 min | 119 [79–167] | 36 [28–51] | 70 (53) | 331 [183–447] | 42 [32–54] | 107 (47) | −185 | −237, −138 | 4.0 × 10−15 | −264 |
| 90 min | 133 [89–219] | 44 [30–56] | 58 (52) | 334 [197–484] | 44 [32–55] | 75 (47) | −175 | −241, −116 | 4.6 × 10−9 | −271 |
| 120 min | 102 [60–160] | 36 [27–51] | 70 (53) | 192 [105–318] | 42 [32–54] | 106 (47) | −77 | −116, −45 | 1.7 × 10−6 | −146 |
| OGTT C-peptide (nmol/l) | ||||||||||
| 0 min | 0.35 [0.21–0.45] | 36 [29–49] | 71 (54) | 0.36 [0.17–0.55] | 41 [30–57] | 92 (48) | 0.00 | −0.1, 0.0 | 0.5 | −0.052 |
| 30 min | 0.75 [0.41–0.99] | 36 [29–50] | 69 (54) | 1.22 [0.53–1.89] | 41 [30–57] | 93 (47) | −0.53 | −0.8, −0.3 | 9.6 × 10−6 | −0.55 |
| 120 min | 0.96 [0.59–1.52] | 36 [29–49] | 71 (54) | 1.30 [0.62–2.06] | 41 [30–57] | 92 (48) | −0.30 | −0.5, 0.0 | 0.057 | −0.38 |
| OGTT proinsulin (pmol/l) | ||||||||||
| 0 min | 3.7 [2.4–5.8] | 46 [30–58] | 41 (49) | 6.7 [3.7–14.6] | 54 [38–66] | 43 (35) | −3.0 | −5.1, −1.3 | 0.0003 | −5.3 |
| 120 min | 14 [10–24] | 46 [30–58] | 41 (49) | 41 [28–74] | 54 [38–66] | 43 (35) | −25 | −35.8, −16.9 | 1.2 × 10−9 | −37 |
| OGTT insulin:C-peptide | ||||||||||
| 30 min | 152 [120–188] | 36 [29–51] | 67 (54) | 273 [191–565] | 41 [30–57] | 92 (48) | −111 | −156, −76 | 2.8 × 10−10 | (−326) |
| 120 min | 115 [85–149] | 36 [29–50] | 69 (54) | 135 [103–341] | 41 [30–57] | 91 (48) | −33 | −62, −11 | 0.002 | (−222) |
| Glucagon (μmol/l) | ||||||||||
| At fastingb | 5.5 [3.7–8.7] | 46 [30–60] | 48 (50) | 6.4 [4.7–8.4] | 54 [39–66] | 39 (33) | −0.6 | −2, 0.7 | 0.4 | 0.15 |
| 0 min (OGTT) | 5.5 [3.7–8.0] | 46 [29–57] | 39 (49) | 6.4 [4.7–8.4] | 54 [39–66] | 39 (33) | −0.9 | −2.4, 0.4 | 0.18 | −0.092 |
| 120 min (OGTT) | 3.6 [2.5–5.3] | 46 [29–57] | 39 (49) | 3.5 [2.2–5.5] | 55 [40–67] | 38 (32) | 0.2 | −0.8, 1.2 | 0.64 | 0.88 |
| Indices of glucose metabolism | ||||||||||
| CIRd | 19 [9–42] | 36 [27–51] | 69 (54) | 115 [70–173] | 42 [32–54] | 106 (46) | −86 | −108, −68 | 3.3 × 10−19 | (−115)c |
| HOMA2-B (%) | 35 [19–57] | 39 [29–55] | 108 (52) | 62 [48–78] | 43 [31–55] | 117 (45) | −26.6 | −32.8, −20.4 | 6.0 × 10−12 | −27 |
| HOMA2-IS (%) | 139 [91–232] | 39 [29–55] | 108 (52) | 136 [90–220] | 43 [31–55] | 117 (45) | 9.1 | −13.8, 33.5 | 0.43 | 8.1 |
| ISId | 9.3 [6.1–14.2] | 35 [27–48] | 66 (55) | 6.6 [4.6–10.8] | 43 [32–55] | 105 (47) | 2.57 | 1.1, 4.1 | 0.0012 | 2.8 |
The data represent the first adult levels (median [IQR]) of plasma glucose, serum insulin, serum C-peptide, serum proinsulin and serum glucagon at fasting, as well as during an OGTT for a subgroup. N (% female), total number of individuals (the proportion of women). For more results, see ESM Table 4
aLinear model estimate adjusted for age and sex
bIncluding the 0 min values reported for the OGTT
cOne outlier was excluded from a linear model for CIR and nine for fasting insulin:C-peptide ratio
dCIR (at 30 min) in 100 pmol/l (mmol/l)−2, ISI in 10,000 (mg/dl)−1 (mU/l)−1; to convert ISI into 10,000 (mmol/l)−1 (pmol/l)−1, please multiply by 2.59
CIR, corrected insulin response; HOMA2-IS, HOMA2 insulin sensitivity index; LM, linear model