title: Association between Polymorphisms in Antioxidant Genes and Inflammatory Bowel Disease.
abstract: Inflammation is the driving force in inflammatory bowel disease (IBD) and its link to oxidative stress and carcinogenesis has long been accepted. The antioxidant system of the intestinal mucosa in IBD is compromised resulting in increased oxidative injury. This defective antioxidant system may be the result of genetic variants in antioxidant genes, which can represent susceptibility factors for IBD, namely Crohn's disease (CD) and ulcerative colitis (UC). Single nucleotide polymorphisms (SNPs) in the antioxidant genes SOD2 (rs4880) and GPX1 (rs1050450) were genotyped in a Portuguese population comprising 436 Crohn's disease and 367 ulcerative colitis patients, and 434 healthy controls. We found that the AA genotype in GPX1 is associated with ulcerative colitis (OR = 1.93, adjusted P-value = 0.037). Moreover, we found nominal significant associations between SOD2 and Crohn's disease susceptibility and disease subphenotypes but these did not withstand the correction for multiple testing. These findings indicate a possible link between disease phenotypes and antioxidant genes. These results suggest a potential role for antioxidant genes in IBD pathogenesis and should be considered in future association studies.
authors.affiliation: Department of Environmental Health, National Institute of Health Dr. Ricardo Jorge, Oporto, Portugal.|MedInUP - Centre for Drug Discovery and Innovative Medicines, University of Porto, Oporto, Portugal.|EPIUnit - Institute of Public Health, University of Porto, Oporto, Portugal.
authors.forename: Cristiana
authors.initials: C
authors.lastname: Costa Pereira
authors.affiliation: Ipatimup - Institute of Molecular Pathology and Immunology of the University of Porto, Oporto, Portugal.|i3S - Instituto de Investigação e Inovação em Saúde, Universidade do Porto, Oporto, Portugal.
authors.forename: Cecília
authors.initials: C
authors.lastname: Durães
authors.affiliation: Department of Gastroenterology, Faculty of Medicine, Centro Hospitalar São João, Oporto, Portugal.
authors.forename: Rosa
authors.initials: R
authors.lastname: Coelho
authors.affiliation: Department of Pharmacology and Therapeutics, Faculty of Medicine, University of Porto, Oporto, Portugal.
authors.forename: Daniela
authors.initials: D
authors.lastname: Grácio
authors.affiliation: Department of Gastroenterology, Faculty of Medicine, Centro Hospitalar São João, Oporto, Portugal.
authors.forename: Marco
authors.initials: M
authors.lastname: Silva
authors.affiliation: Department of Gastroenterology, Faculty of Medicine, Centro Hospitalar São João, Oporto, Portugal.
authors.forename: Armando
authors.initials: A
authors.lastname: Peixoto
authors.affiliation: Department of Gastroenterology, HSA - Centro Hospitalar do Porto, Oporto, Portugal.
authors.forename: Paula
authors.initials: P
authors.lastname: Lago
authors.affiliation: Ipatimup - Institute of Molecular Pathology and Immunology of the University of Porto, Oporto, Portugal.|i3S - Instituto de Investigação e Inovação em Saúde, Universidade do Porto, Oporto, Portugal.|Institute for the Biomedical Sciences Abel Salazar, University of Porto, Oporto, Portugal.
authors.forename: Márcia
authors.initials: M
authors.lastname: Pereira
authors.affiliation: Ipatimup - Institute of Molecular Pathology and Immunology of the University of Porto, Oporto, Portugal.|i3S - Instituto de Investigação e Inovação em Saúde, Universidade do Porto, Oporto, Portugal.
authors.forename: Telmo
authors.initials: T
authors.lastname: Catarino
authors.affiliation: Ipatimup - Institute of Molecular Pathology and Immunology of the University of Porto, Oporto, Portugal.|i3S - Instituto de Investigação e Inovação em Saúde, Universidade do Porto, Oporto, Portugal.
authors.forename: Salomé
authors.initials: S
authors.lastname: Pinho
authors.affiliation: Department of Environmental Health, National Institute of Health Dr. Ricardo Jorge, Oporto, Portugal.|EPIUnit - Institute of Public Health, University of Porto, Oporto, Portugal.
authors.forename: João Paulo
authors.initials: JP
authors.lastname: Teixeira
authors.affiliation: Department of Gastroenterology, Faculty of Medicine, Centro Hospitalar São João, Oporto, Portugal.
authors.forename: Guilherme
authors.initials: G
authors.lastname: Macedo
authors.affiliation: Emergency Department, Gastroenterology Unit, AOU Careggi, Florence, Italy.
authors.forename: Vito
authors.initials: V
authors.lastname: Annese
authors.affiliation: MedInUP - Centre for Drug Discovery and Innovative Medicines, University of Porto, Oporto, Portugal.|Department of Gastroenterology, Faculty of Medicine, Centro Hospitalar São João, Oporto, Portugal.|Department of Pharmacology and Therapeutics, Faculty of Medicine, University of Porto, Oporto, Portugal.
authors.forename: Fernando
authors.identifier: http://orcid.org/0000-0003-2634-9668
authors.initials: F
authors.lastname: Magro
mesh_terms: D000328:Adult; D000368:Aged; D003093:Colitis, Ulcerative / Q000235:genetics; D003424:Crohn Disease / Q000235:genetics; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005838:Genotype; D005979:Glutathione Peroxidase / Q000235:genetics; D006801:Humans; D015212:Inflammatory Bowel Diseases / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D013482:Superoxide Dismutase / Q000235:genetics; D000094765:Glutathione Peroxidase GPX1; D000099156:Superoxide Dismutase 2
chemical_list: D005979:Glutathione Peroxidase; D013482:Superoxide Dismutase; D000094765:Glutathione Peroxidase GPX1; D000099156:Superoxide Dismutase 2; C000722067:GPX1 protein, human