Table 3.
Genotype and allele frequencies of MSX1, PAX9, and AXIN2 polymorphisms in frontal agenesis.
| Polymorphism | Frontal agenesis (N = 42), n | Matched controls (N = 42), n | Statistical analysis for genotypes | Statistical analysis for alleles |
|---|---|---|---|---|
| MSX1 rs12532 | ||||
| A/G | 25 | 15 | A/G + G/G vs A/A | G vs A |
| A/A | 13 | 20 | Chi-square = 3.86 | Chi-square = 3.89 |
| A/G | 4 | 7 | p=0.049∗ | p=0.048∗ |
| G/G | 63 | 50 | OR = 0.37 | OR = 0.49 |
| A | 21 | 34 | ||
| G | ||||
|
| ||||
| MSX1 rs8670 C/T | ||||
| C/C | 20 | 36 | C/T + T/T vs C/C | T vs C |
| C/T | 17 | 6 | Chi-square = 12.05 | Chi-square = 15.08 |
| T/T | 5 | 0 | p=0.0005∗ | p=0.0001∗ |
| C | 57 | 78 | OR = 6.6 | OR = 6.15 |
| T | 27 | 6 | ||
|
| ||||
| PAX9 rs61754301 | ||||
| C/T | 42 | 42 | C/T + T/T vs C/C | T vs C |
| C/C | 0 | 0 | ||
| C/T | 0 | 0 | NA | NA |
| T/T | 84 | 84 | ||
| C | 0 | 0 | ||
| T | ||||
|
| ||||
| PAX9 rs4904155 | ||||
| C/G | 18 | 22 | C/G + G/G vs C/C | G vs C |
| C/C | 20 | 14 | Chi-square = 0.42 | Chi-square = 0.02 |
| C/G | 4 | 6 | p=0.512 | p=0.868 |
| G/G | 56 | 58 | OR = 1.46 | OR = 1.11 |
| C | 28 | 26 | ||
| G | ||||
|
| ||||
| AXIN2 rs2240308 | ||||
| G/A | 7 | 15 | G/A + A/A vs G/G | A vs G |
| G/G | 23 | 21 | Chi-square = 3.01 | Chi-square = 4.03 |
| G/A | 12 | 6 | p=0.082 | p=0.044∗ |
| A/A | 37 | 51 | OR = 2.77 | OR = 1.96 |
| G | 47 | 33 | ||
| A | ||||
p ≤ 0.001, highly significant; 0.001 ≤ p ≤ 0.05, significant; p ≥ 0.05, not significant; NA, not available.