Allele frequencies of RET single nucleotide polymorphisms in 87 sporadic Chinese cases of Hirschsprung’s disease and 100 ethnically matched controls
| Exon | Nucleotide change | Codon | Frequency of the variant allele (%) | Statistic | Frequency of the variant allele (%) | |||
|---|---|---|---|---|---|---|---|---|
| Spanish* | German† | |||||||
| Controls (100) | Patients (87) | χ2 | p Value | Controls v patients (χ2; p value) | Controlsv patients (χ2; p value) | |||
| *Borrego et al, 1999; †Fitze et al, 1999. | ||||||||
| F, Fisher’s exact test; ND, not described; | ||||||||
| – | IVS1-17 T>G (new) | – | 0 | 1.1 | 1.15 | 0.28 | ND | ND |
| 2 | c129 C>G (new) | D43E | 1 | 0 | 0.87 | 0.34 | ND | ND |
| 2 | c135 G>A | A45A | 41 | 73 | 38.62 | <0.0001 | 16 v 59 (62.5; <0.0001) | 23 v 73.4 (93.1; <0.001) |
| 2 | c200 G>A (new) | R67H | 2.5 | 0.5 | 2.18 | 0.14 | ND | ND |
| – | IVS2+9 G>A | – | 10.5 | 5.1 | 3.60 | 0.06 | ND | ND |
| 3 | c375 C>A | V125V | 0.5 | 0.5 | 0.01 | 0.92 | 3 v 7 (F; 0.15) | 1.9 v 2.4 (0.12; 0.7) |
| 7 | c1296 G>A | A432A | 21 | 12 | 5.30 | 0.02 | 30 v 21.8 (F; 0.14) | 27.6 v 25.8 (0.14; 0.7) |
| 7 | c1465 G>A (new) | D489N | 2 | 3.4 | 0.75 | 0.39 | ND | ND |
| 11 | c2071 G>A | G691S | 10.5 | 4.5 | 4.53 | 0.03 | 23.5 v 12.5 (5.4; 0.02) | 20.2 v 10.5 (5.8; 0.016) |
| 11 | c2037 C>T (new) | P679P | 0.5 | 0.5 | 0.01 | 0.92 | ND | ND |
| 13 | c2307 T>G | L769L | 49 | 75.2 | 28.05 | <0.0001 | 14 v 30.5 (12; <0.0001) | 23.7 v 42.7 (15.5; <0.001) |
| 14 | c2508 C>T | S836S | 0 | 0 | − | − | 4 vs. 2.3 (F; 0.54) | 3.6 v 0 (4.8; 0.032) |
| 15 | c2712 C>G | S904S | 10.5 | 4.5 | 4.53 | 0.03 | 23.5 v 12.5 (5.4; 0.02) | 20 v 11.3 (4.5; 0.03) |