Table 2 Risk of craniosynostosis in SMAD6 variant carriers in the presence/absence of the BMP2 risk allele (C).
From: SMAD6 variants in craniosynostosis: genotype and phenotype evaluation
SMAD6 / BMP2 genotypes | CRS (+) | CRS (-) | Fisher’s exact P value (one-tailed) | |
|---|---|---|---|---|
This work | SMAD6 (+) / BMP2 risk allele (+) | 17 | 12 | |
SMAD6 (+) / BMP2 risk allele (-) | 11 | 8 | 0.60 | |
SMAD6 (+) / BMP2 risk allele (+) | 15 | 1 | ||
SMAD6 (+) / BMP2 risk allele (-) | 6 | 19 | 0.000011 | |
Combined | SMAD6 (+) / BMP2 risk allele (+) | 32 | 13 | |
SMAD6 (+) / BMP2 risk allele (-) | 17 | 27 | 0.0019 |
