Allele frequencies (%) of the most frequent RET polymorphisms in SSA and LSA patients and in patients with and without mutation in RET
| Codon | SNP (allele) | Sporadic cases of Hirschsprung’s disease | |
|---|---|---|---|
| LSA (n = 14) v SSA (n = 73) | Without mutation (n = 71) v with mutation (n = 16) | ||
| LSA, long segment aganglionosis; SNP, single nucleotide polymorphism; SSA, short segment aganglionosis. | |||
| A45A | c135G>A (A) | 67.8 v 73.9 (χ2 = 0.45, p = 0.50) | 70.4 v 84.3 (χ2 = 2.6, p = 0.10) |
| A432A | c1296G>A (A) | 25 v 9.5 (χ2 = 5.26, p = 0.02) | 12.6 v 15.6 (χ2 = 0.47, p = 0.50) |
| L769L | c2307T>G (G) | 78.5 v 74.6 (χ2 = 0.19, p = 0.66) | 87.5 v 64.8 (χ2 = 2.9, p = 0.08) |