Figure 1
Characteristics of SNPs_
| Genes | SNPs | Type of Alteration | Base Change | Global MAF* | Genotyping success rate |
|---|---|---|---|---|---|
| RUNX2 | rs59983488 | Upstream Variant | G > T | 0.15 | 88.7% |
| Rs1200425 | Intron Variant | G > A | 0.44 | 87.0% | |
| SMAD6 | rs3934908 | Intron Variant | C > T | 0.41 | 91.9% |
| Rs211261 | Intron Variant | C > T | 0.19 | 90.3% | |
| BMP2 | rs1005464 | Intron Variant | G > A | 0.19 | 91.9% |
| rs235768 | Missense Variant | T > A | 0.32 | 90.3% | |
| BMP4 | Rs17563 | Missense Variant | A > G | 0.42 | 88.7% |
Allelic and Genotypic distribution between anterior TSD groups and comparison by Fisher Test_
| Gene | SNP | Comparison Type | Alleles or Genotypes | Control (%) | Control vs. Maxillary tooth-size anterior excess | Control vs. Mandibular tooth-size anterior excess | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Maxillary (%) | p-value | OR | 95% CI | Mandibular (%) | p-value | Odds Ratio | 95% Confidence Interval | |||||
| AA | 2 (6.5) | 1 (12.5) | 0.536 | 1.91 | 0.11–18.28 | 0 (0.0) | >0.999 | - | - | |||
| rs235768 | Allelic | T | 47 (75.8) | 11 (68.7) | Ref. | 26 (72.2) | Ref. | |||||
| A | 15 (24.2) | 5 (31.3) | 0.539 | 1.42 | 0.46–4.88 | 10 (27.8) | 0.810 | 1.20 | 0.44–2.92 | |||
| Genotypic | TT | 16 (51.6) | 4 (50.0) | Ref. | 9 (50.0) | Ref. | ||||||
| TA | 15 (48.4) | 3 (37.5) | >0.999 | 0.80 | 0.17–3.41 | 8 (44.4) | >0.999 | 0.94 | 0.30–2.84 | |||
| AA | 0 (0.0) | 1 (12.5) | 0.23 | - | - | 1 (5.6) | 0.384 | - | - | |||
| BMP4 | rs17563 | Allelic | A | 39 (62.9) | 9 (64.3) | Ref. | 21 (61.8) | Ref. | ||||
| G | 23 (37.1) | 5 (35.7) | >0.999 | 0.94 | 0.31–3.11 | 13 (38.2) | >0.999 | 1.05 | 0.46–2.47 | |||
| Genotypic | AA | 13 (41.9) | 2 (28.6) | Ref. | 7(41.2) | Ref. | ||||||
| AG | 13 (41.9) | 5 (71.4) | 0.413 | 2.50 | 0.37–13.97 | 7(41.2) | >0.999 | 1.00 | 0.25–3.96 | |||
| GG | 5 (16.1) | 0 (0.0) | >0.999 | - | - | 3 (17.6) | >0.999 | 1.11 | 0.23–5.39 | |||
Allelic and Genotypic distribution between overall TSD groups and comparison by Fisher Test_
| Control vs. Maxillary tooth-size overall excess | Control vs. Mandibular tooth-size overall excess | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Gene | SNP | Model | Alleles or Genotypes | Control (%) | Maxillary (%) | p-value | Odds ratio | 95% Confidence Interval | Mandibular (%) | p-value | Odds Ratio | 95% Confidence Interval |
| AA | 3 (9.7) | 0 (0.0) | >0.999 | - | - | 0 (0.0) | 0.268 | - | - | |||
| rs235768 | Allelic | T | 48 (75.0) | 8 (80.0) | Ref. | 28 (70.0) | Ref. | |||||
| A | 16 (25.0) | 2 (20.0) | >0.999 | 0.75 | 0.14–3.84 | 12 (30.0) | 0.651 | 1.28 | 0.55–3.18 | |||
| Genotypic | TT | 17 (53.1) | 3 (60.0) | Ref. | 9 (45.0) | Ref. | ||||||
| TA | 14 (43.8) | 2 (40.0) | >0.999 | 0.80 | 0.13–4.44 | 10 (50.0) | 0.771 | 1.34 | 0.40–3.89 | |||
| AA | 1 (3.1) | 0 (0.0) | >0.999 | - | - | 1 (5.0) | >0.999 | 1.88 | 0.09–37.71 | |||
| BMP4 | rs17563 | Allelic | A | 34 (55.7) | 6 (60.0) | Ref. | 29 (72.5) | Ref. | ||||
| G | 26 (43.3) | 4 (40.0) | >0.999 | 11 (27.5) | 0.139 | 0.49 | 0.21–1.13 | |||||
| Genotypic | AA | 10 (33.3) | 2 (40.0) | Ref. | 10 (50.0) | Ref. | ||||||
| AG | 14 (46.7) | 2 (40.0) | >0.999 | 0.71 | 0.10–5.21 | 9 (45.0) | 0.547 | 0.64 | 0.19–1.99 | |||
| GG | 6 (20.0) | 1 (20.0) | >0.999 | 0.83 | 0.05–8.47 | 1 (5.0) | 0.183 | 0.16 | 0.01–1.64 | |||