Genetic interaction of GSH metabolic pathway genes in cystic fibrosis

Marson, Fernando Augusto de Lima; Bertuzzo, Carmen Sílvia; Secolin, Rodrigo; Ribeiro, Antônio Fernando; Ribeiro, José Dirceu

doi:10.1186/1471-2350-14-60

BMC Medical Genetics

Table 3 Genetic interaction of polymorphisms and CFTR mutations in association with cystic fibrosis clinical variables

From: Genetic interaction of GSH metabolic pathway genes in cystic fibrosis

Clinical variables		Gene	Ratio	Testing ball. acc.	p-value	Cross validation consistency
Male/female		CFTRGCLCGSTP1GSTT1GSTM1	1	0.5056	0.8506	10/10
Race (caucasian/ no caucasian)		CFTRGCLCGSTP1GSTT1GSTM1	0.0909	0.3909	0.9915	10/10
Age		CFTRGCLCGSTP1GSTT1GSTM1	0.9889	0.5312	0.6870	10/10
Age for diagnosis		CFTRGCLCGSTP1GSTT1GSTM1	0.8804	0.4100	0.9989	10/10
Onset of symptoms	geral	CFTRGCLCGSTP1GSTT1GSTM1	0.7526	0.4286	0.9945	10/10
	digestive	CFTRGCLCGSTP1GSTT1GSTM1	0.9737	0.4614	0.9698	10/10
	pulmonary	CFTRGCLCGSTP1GSTT1GSTM1	0.7935	0.5022	0.8566	10/10
Clinical scores	Bhalla	CFTRGCLCGSTP1GSTT1GSTM1	0.9552	0.6824	0.0080 ^#	10/10
	Kanga	CFTRGCLCGSTP1GSTT1GSTM1	0.9571	0.5131	0.8165	10/10
	Shwachman-Kulczycki	CFTRGCLCGSTP1GSTT1GSTM1	0.9	0.5562	0.5474	10/10
Body mass index		CFTRGCLCGSTP1GSTT1GSTM1	3.45	0.5484	0.6260	10/10
Sputum’s microbiology	A. xylosoxidans	CFTRGCLCGSTP1GSTT1GSTM1	0.1118	0.4617	0.9418	10/10
	P. aeruginosa mucoid	CFTRGCLCGSTP1GSTT1GSTM1	0.7379	0.5505	0.5507	10/10
	P. aeruginosa no mucoid	CFTRGCLCGSTP1GSTT1GSTM1	1.2949	0.4151	0.9951	10/10
	S. aureus	CFTRGCLCGSTP1GSTT1GSTM1	3.7105	0.5094	0.8317	6/10
	B. cepacia	CFTRGCLCGSTP1GSTT1GSTM1	0.1548	0.5277	0.7610	10/10
First isolated P. aeruginosa		CFTRGCLCGSTP1GSTT1GSTM1	0.9552	0.4913	0.8903	7/10
Hemoglobin oxygen saturation in the blood		CFTRGCLCGSTP1GSTT1GSTM1	0.9602	0.5312	0.6904	10/10
Spirometry	FEV₁	CFTRGCLCGSTP1GSTT1GSTM1	0.9848	0.4746	0.9448	10/10
	FVC(%)	CFTRGCLCGSTP1GSTT1GSTM1	0.900	0.4437	0.9833	10/10
	FEV₁/FVC(%)	CFTRGCLCGSTP1GSTT1GSTM1	0.9403	0.6426	0.0586	10/10
	FEF_25-75%	CFTRGCLCGSTP1GSTT1GSTM1	0.9848	0.5054	0.8447	10/10
Comorbidities	Pancreatic insufficiency	CFTRGCLCGSTP1GSTT1GSTM1	3.977	0.5266	0.7486	10/10
	Meconium ileus	CFTRGCLCGSTP1GSTT1GSTM1	0.1776	0.5401	0.6950	10/10
	Nasal polyps	CFTRGCLCGSTP1GSTT1GSTM1	0.2292	0.5713	0.5139	10/10
	Diabetes mellitus	CFTRGCLCGSTP1GSTT1GSTM1	0.2292	0.4527	0.9728	10/10
	Osteoporosis	CFTRGCLCGSTP1GSTT1GSTM1	0.1959	0.3815	0.9988	10/10

GCLC glutamate-cysteine ligase catalytic subunit, GST glutathione S-transferase, Testing Ball. Acc. Testing Balance Accuracy, CFTR Cystic Fibrosis Transmembrane Regulator, A. xylosoxidans Achromobacter xylosoxidans, B. cepacia Burkolderia cepacia, P. aeruginosa Pseudomonas aeruginosa, S. aureus Staplylococcus aures, FEV ₁ forced expiratory volume in one second, FVC - forced vital capacity, FEF _25-75% forced expiratory flow between 25 and 75% of CVF. 1. Severe variants to polymorphism: allele T, GCLC 129C>T polymorphism, allele G - GCLC-350A>G and GSTP1+313A>G polymorphisms, deletion allele GSTM1 and GSTT1 genes. # Association of GCLC-129C>T, GCLC-350A>G, GSTP1+313A>G, GSTM1 and GSTT1 genes deletion and mutations in the CFTR gene with the Bhalla Score, p: 0.0080. Statistical analysis performed by the MDR2.0 and MDRPT0.4.7 software.

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ISSN: 1471-2350

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