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

BMC Medical Genetics

Table 2 Polymorphisms in modifier genes associated with categorical variables of cystic fibrosis severity

*CFTR*group	Polymorphism	Genotype	Variable			p^c	OR	CI (5–95%)
One CFTR mutation identified	GCLC-129C > T		PAM
			Presence	Absence	Total
		CC	25	17	42	0.044	11.27	1.6–272.6
		CT + TT	1	8	9	0.044	-	-
	GCLC-3506A > G		PANM
			Presence	Absence	Total
		AA	28	9	37	0.012	7.408	1.905–33.43
		AG + GG	4	10	14	0.012	-	-
No mutation identified	GSTT1 gene deletion		PANM
			Presence	Absence	Total
		Not expressed	13	9	21	0.008	7.895	2.095–34.96
		Expressed	4	23	27	0.008	-	-
One CFTR mutation identified + IP	GSTM1 gene deletion		Digestive symptoms
			< 6 months	≥ 6 months
		Not expressed	3	12	15	0.032	0.134	0.023-0.606
		Expressed	14	7	21	0.032	-	-
Two mutations identified	GSTP1 + 313A > G		Osteoporosis
			Presence	Absence	Total
		AA	2	42	44	0.036	0.141	0.028–0.687
		AG + GG	9	26	35	0.036	-	-
Without taking CFTR mutation into account			Age (months)
			≤ 154	> 154	Total
		AA	58	39	97	0.044	2.198	1.208–4.037
		AG + GG	33	49	82	0.044	-	-

Statistical analysis was performed by Fisher’s exact test. CFTR, Cystic fibrosis transmembrane regulator; GCLC, Glutamate-cysteine ligase catalytic subunit; GSTM1, Glutathione S-transferase mu 1; GSTT1, Glutathione S-transferase theta 1; GSTP1, Glutathione S-transferase Pi 1; PI, Pancreatic insufficiency; PAM, Pseudomonas aeruginosa mucoid; PANM, Pseudomonas aeruginosa no mucoid; p^c, P-value corrected by Bonferroni test; OR, Odds ratio; CI, Confidence interval.

ISSN: 1471-2350