Table 1

Genotype frequency distribution of the PHOX2B gene polymorphisms

Patients
PolymorphismHSCR +/−RET mutations
(n=91)*		HSCR −RET mutations
(n=75) †		Controls (n=71)
*HSCR patients regardless of their RET mutation status.
†HSCR patients with no RET mutations.
‡N no deletion.
§D deletion.
A→G1364
    AA0.81 (n=73)0.77 (n=56)0.64 (n=46)
    AG0.16 (n=15)0.19 (n=14)0.36 (n=25)
    GG0.03 (n=3)0.03 (n=3)0.00 (n=0)
χ2=9.30*; p=0.0095*; χ2=7.38 † ; p=0.024 †
A→C2607
    AA0.90 (n=82)0.88 (n=64)0.83 (n=59)
    AC0.10 (n=9)0.12 (n=9)0.17 (n=12)
    CC0.00 (n=0)0.00 (n=0)0.00 (n=0)
χ2=1.74* ; p=0.23* ; χ2=0.71 † ; p=0.39 †
DEL2609
    NN‡0.92 (n=79)0.90 (n=66)0.87 (n=62)
    ND§0.08 (n=7)0.10 (n=7)0.13 (n=9)
    DD0.00 (n=0)0.00 (n=0)0.00 (n=0)
χ2=1.11* ; p=0.29* ; χ2=0.41 † ; p=0.52 †