Table 2.
Clinical data of our patients according to IRF6 rs2235371 genotype
| IRF6 rs2235371 | ||||
|---|---|---|---|---|
| G/G | G/A | Total | p | |
| Sex | ||||
| F/M | 24/52 | 1/4 | 81 | 0.63 |
| Height at start GH | ||||
| Mean ± SD | −3.2 ± 0.8 | −2.9 ± 0.7 | 81 | 0.45 |
| Range | (−5.8 to −0.7) | (−3.7 to −2.1) | ||
| Arginin test peak GH | ||||
| Mean ± SD | 9.5 ± 6.3 | 11.5 ± 2.7 | 65 | 0.53 |
| Range | (0–24) | (8.8–15) | ||
| IGF-I SDS | ||||
| Mean ± SD | −3.2 ± 2.4 | −2.6 ± 1.5 | 73 | 0.55 |
| Range | (−9.0 to 0.9) | (−5.0 to −1.1) | ||
| Birth weight (kg) | ||||
| Mean ± SD | 3.1 ± 0.6 | 2.8 ± 0.5 | 78 | 0.25 |
| Range | (1.2–4.3) | (2.1–3.2) | ||
| Birth length (cm) | ||||
| Mean ± SD | 48 ± 3.5 | 45.5 ± 4.2 | 60 | 0.18 |
| Range | (35–52) | (41–50) | ||
| Gestational age at birth (w) | ||||
| Mean ± SD | 38.9 ± 2.8 | 38.9 ± 1.3 | 76 | 0.94 |
| Range | (32–43) | (37–40) | ||
| Pituitary anomalies on MRI | ||||
| No | 24 (31%) | 4 (80%) | 81 | 0.017 |
| Yes | 39 (51%) | 0 (0%) | ||
| Unknown | 13 (17%) | 1 (20%) | ||
| Midfacial hypoplasiaa | ||||
| Yes | 9 (12%) | 0 (0%) | 81 | 0.414 |
| No | 67 (88%) | 5 (100%) | ||
| Midline defectb | ||||
| Yes | 2 (3%) | 0 (0%) | 81 | 0.713 |
| No | 74 (97%) | 5 (100%) | ||
GHD growth hormone deficiency
Significant differences (between people with and without the protective SNP) are shown in bold
aMidfacial hypoplasia reported by treating physician, before start of GH treatment
bOne female patient had a cleft lip and palate, one male patient had a cleft lip and palate and a bifid tongue