Table 2 Genotypic characteristic of gene polymorphisms at GCLC, GSTM1, GSTT1, and GSTP1 genes and CFTR gene mutation among cystic fibrosis patients
From: Genetic interaction of GSH metabolic pathway genes in cystic fibrosis
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% | ||||||