Polymorphisms in the glutathione pathway modulate cystic fibrosis severity: a cross-sectional study

BMC Medical Genetics

Table 1 Distribution of GCLC , GSTM1, GSTT1 and GSTP1 polymorphisms

Gene	Polymorphism		Genotypes (N analyzed and %)		Grouping (N analyzed and %)		Total
GCLC	−129C > T^a	CC	CT	TT	CC	CT + TT	181 (100%)
	−129C > T^a	145 (80.11%)	29 (16.02%)	7 (3.87%)	145 (80.11%)	36 (19.89%)	181 (100%)
	−3506A > G^b	AA	AG	GG	AA	AG + GG	181 (100%)
	−3506A > G^b	119 (65.75%)	56 (30.94%)	6 (3.31%)	119 (65.75%)	62 (35.25%)	181 (100%)
M1	Deletion^c	-	+				181 (100%)
M1	Deletion^c	73 (40.33%)	108 (59.67%)				181 (100%)
T1	Deletion^d	-	+				181 (100%)
T1	Deletion^d	63 (34.81%)	118 (65.19%)				181 (100%)
M1/T1	Deletion	−/−	+/− and −/+	+/+			181 (100%)
M1/T1	Deletion	19 (10.50%)	99 (54.70%)	63 (34.80%)			181 (100%)
GSTP1	+313A > G^f	AA	AG	GG	AA	AG + GG	181 (100%)
GSTP1	+313A > G^f	98 (54.14%)	74 (40.88%)	9 (4.98%)	98 (54.14%)	83 (45.86%)	181 (100%)

GSTM1, Glutathione S-transferase Mu; GSTT1, Glutathione S-transferase Theta 1; GSTP1, Glutathione S-transferase Pi 1; GCLC, Glutamate-cysteine ligase, catalytic subunit; N, Sample size; −, Null allele; +, Expressed allele.
The statistical association, taking into account the CFTR mutation groups, with the polymorphisms distribution was by p-values in the table: ^a0.880 (GCLC-129C > T); ^b0.075 GCLC-3506A > G); ^c0.969 (M1); ^d0.088 (T1); ^e0,329 (GSTP1 + 313A > G)^f.

ISSN: 1471-2350