Location | Substitution | Genotypic frequencies | Total no | χ2 | df | p | p^ | Allelic frequencies | χ2 | df | p | ||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GG | GC | CC | G | C | |||||||||||
*Deposited in HGVbase (http://hgvbase.cgb.ki.se/) | |||||||||||||||
p^ refers to Mantel-Haenszel test of linearity; | |||||||||||||||
Exon 4 | K167N (501G>C) | Controls | 0.825 | 0.165 | 0.010 | 103 | 0.908 | 0.092 | |||||||
Patients | 0,913 | 0,087 | 0,000 | 150 | 5.16 | 2 | 0.07 | 0.03 | 0.957 | 0.043 | 4.139 | 1 | 0.04 | ||
CC | CT | TT | C | T | |||||||||||
3′UTR | *188 C>T | Controls | 0.262 | 0.573 | 0.165 | 103 | 0.548 | 0.452 | |||||||
Patients | 0.087 | 0.546 | 0.367 | 150 | 20.69 | 2 | <0.0001 | 0 | 0.360 | 0.640 | 16.89 | 1 | 0.0004 | ||
Intron 4 | IVS4+27 G>C | genotypic and allelic frequencies are identical to the 3′UTR *188 C>T | |||||||||||||
Intron 4 | IVS4−73 C>T | ||||||||||||||
Intron 4 | IVS4−14 A>G | ||||||||||||||
Intron 5 | IVS5−70 A>G | ||||||||||||||
Intron 5 | IVS5−27 G>T |