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Association between Polymorphisms in Antioxidant Genes and Inflammatory Bowel Disease
Cristiana Costa Pereira1,2,3, Cecília Durães4,5, Rosa Coelho6
1Department of Environmental Health, National Institute of Health Dr. Ricardo Jorge, Oporto, Portugal.
Plos One
|January 5, 2017
Summary
Genetic variations in antioxidant genes may influence inflammatory bowel disease (IBD) risk. The GPX1 gene
Area of Science:
- Genetics
- Gastroenterology
- Molecular Biology
Background:
- Inflammatory bowel disease (IBD) pathogenesis involves inflammation, oxidative stress, and compromised intestinal antioxidant systems.
- Genetic variants in antioxidant genes may increase susceptibility to IBD, including Crohn's disease (CD) and ulcerative colitis (UC).
Purpose of the Study:
- To investigate the association between single nucleotide polymorphisms (SNPs) in antioxidant genes SOD2 and GPX1 and IBD susceptibility in a Portuguese population.
- To explore the potential role of these genetic variants in IBD pathogenesis and disease phenotypes.
Main Methods:
- Genotyping of SOD2 (rs4880) and GPX1 (rs1050450) SNPs in 436 CD patients, 367 UC patients, and 434 healthy controls.
- Statistical analysis to determine associations between genotypes and IBD, CD, and UC.
Main Results:
- The AA genotype of GPX1 (rs1050450) was significantly associated with an increased risk of ulcerative colitis (OR = 1.93, P = 0.037).
- Nominal significant associations between SOD2 (rs4880) and Crohn's disease susceptibility and subphenotypes were observed but did not reach statistical significance after multiple testing correction.
Conclusions:
- Genetic variations in antioxidant genes, particularly GPX1, may play a role in the pathogenesis of ulcerative colitis.
- Further research is warranted to elucidate the contribution of antioxidant genes to IBD development and phenotypes.
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