Table 2.
Genotypic characteristic of gene polymorphisms at GCLC, GSTM1, GSTT1, and GSTP1 genes and CFTR gene mutation among cystic fibrosis patients
| Gene | Chromosome position | Location | Variation | Genotype | MAF | p* | ||
|---|---|---|---|---|---|---|---|---|
| |
|
|
|
C/C |
C/T |
T/T |
|
|
|
GCLC, rs17883901 |
6p12 |
Promoter region |
C/T |
144 (80%) |
29 (16.11%) |
7 (3.89%) |
0.12 |
<0.005 1 |
| |
|
|
|
A/A |
A/G |
G/G |
|
|
|
GCLC, rs137852340 |
6p12 |
Promoter region |
A/G |
118 (65.56%) |
56 (31.11%) |
6 (3.33%) |
0.19 |
>0.05 |
|
GSTP1, rs1695 |
11q13 |
Exon 5 |
A/G |
97 (53.89%) |
74 (41.11%) |
9 (5%) |
0.26 |
>0.05 |
| |
|
|
|
Wt/Wt + Wt/del |
del/del |
|
|
|
|
GSTM1 |
1p13.3 |
|
Deletion |
108 (60%) |
72 (40%) |
|
|
|
|
GSTT1 |
22q11.23 |
|
Deletion |
117 (65%) |
63(35%) |
|
|
|
|
CFTR mutation genoytpe |
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% | ||||||
GCLC glutamate-cysteine ligase catalytic subunit, GSTM1 Glutathione S-transferase Mu 1, GSTT1 Glutathione S-transferase theta 1, GSTP1 Glutathione S-transferase P1, CFTR Cystic fibrosis transmembrane conductance regulator, C Cytosine, T Thymine, A Adenine, G Guanine, < minor than, > bigger than, MAF minor allele frequency, % percentage, *p value for Hardy-Weinberg Equilibrium, N number of patients, Wt Wild allele, del deleted allele, (−) CFTR mutation no identified. 1- GCLC, rs17883901 is not in Hardy-Weinberg Equilibrium in our sample.