Table 3 Genotyping of GCLC , GSTM1 , GSTT1 , and GSTP1 polymorphisms and CFTR mutations
From: Polymorphisms in the glutathione pathway modulate cystic fibrosis severity: a cross-sectional study
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% | ||||