Table 4

Frequency of RET genotypes in patients with Hirschsprung’s disease and controls

Genotype‡§A45AV125VA432AG691SL769LChinese patients (n = 87)Chinese controls (n = 100) (%)χ2p ValueSpanish patients (n = 62)*† (%)Spanish controls (n = 65) (%)
c135 G>Ac375 C>Ac1296 G>Ac2071 G>Ac2307 T>G(n)(%)
*Borrego et al, 2000.
†Capital letters in brackets represent genotypes as designated in Borrego et al, 2000.
‡Only those genotypes with significant differences in frequencies between both populations are represented.
§In bold, genotypes with statistically significant differences between Chinese patients and controls.
¶One individual was TG for IVS1-17 T>G and another individual was GA for c1465 G>A D489N.
**Two individuals were GA for IVS2+9 G>A.
††One individual was GA for IVS2+9 G>A and another individual was GA for c1465 G>A D489N.
1 AA CC GG CC GG 44¶ 50.6 12 29.81 <0.0001 4.8 (CC)1.5
2 GA CC GG CC TG 5 5.7 26†† 11.83 <0.0001 3.2 (AC)0.0
3 GG CC GA CC TT 0 0.0 5 4.47 0.03 4.8 (AD)18.5
4 GG CC GG CC TG 1 1.1 8 4.77 0.02 0.0 (AL)1.5
5AACCGGCCTT000 11.3 (BB)0.0
6AACCGGCCTG33.511.330.249.7 (BC)3.1
7GACCGGCCGG44.621.010.310.0 (CL)0.0
8GACCGACCTG3**3.592.390.1211.3 (AF/CD)0.0
9GACAGGCCTT0009.7 (BH)0.0
10GACCGACCTT0021.760.186.5 (BD)0.0
11GGCCGGCCTT55.740.310.570.0 (AA)12.3
Rest of genotypes combined2225.3315.90.0138.763.1