Table 3.
Genotyping of GCLC, GSTM1, GSTT1, and GSTP1 polymorphisms and CFTR mutations
| Gene | Chromosomal position | Location | Polymorphism | MAF | HWE | p-valuea |
|---|---|---|---|---|---|---|
|
GCLC, rs17883901 |
6p12 |
Promoter region |
C > T |
0.12 |
9.97 |
<0.005 |
|
GCLC, rs137852340 |
6p12 |
Promoter region |
A > G |
0.19 |
0.04 |
>0.05 |
|
GSTP1, rs1695 |
11q13 |
Exon |
A > G |
0.25 |
1.11 |
>0.05 |
|
GSTM1 |
1p13.3 |
|
Deletion |
|
|
|
|
GSTT1 |
22q11.23 |
|
Deletion |
|
|
|
|
CFTR
mutation |
N |
Frequency |
||||
| F508del/F508del |
57 |
31.67% |
||||
| F508del/G542X |
12 |
6.67% |
||||
| F508del/R1162X |
5 |
2.78% |
||||
| F508del/N1303K |
4 |
2.22% |
||||
| F508del/R553X |
1 |
0.56% |
||||
| F508del/S4X |
1 |
0.56% |
||||
| F508del/1717-1G > A |
1 |
0.56% |
||||
| G542X/R1162X |
1 |
0.56% |
||||
| G542X/I618T |
1 |
0.56% |
||||
| G542X/2183A > G |
1 |
0.56% |
||||
| R1162X/R1162X |
1 |
0.56% |
||||
| F508del/- |
45 |
25.00% |
||||
| G542X/- |
5 |
2.78% |
||||
| R1162X/- |
1 |
0.56% |
||||
| −/− | 44 | 24.45% | ||||
MAF, Minor allele frequency; HWE, Hardy Weinberg Equilibrium; aP-value for Hardy-Weinberg Equilibrium; N, Number of patients; −, No identified CFTR mutation.