Genetic polymorphisms in the promoter region of catalase gene, creates new potential PAX-6 and STAT4 response elements

Document Type: Short communication

Author

Department of Biology, College of Sciences, Kunduz University, Kunduz, Afghanistan

Abstract

Catalase (CAT, OMIM: 115500) is an endogenous antioxidant enzyme and genetic variations in the regulatory regions of the CAT gene may alter the CAT enzyme activity and subsequently may alter the risk of oxidative stress related disease. In this study, potential influence(s) of the A-21T (rs7943316) and C-262T (rs1001179) genetic polymorphisms in the CAT promoter region, using the ALGGEN-PROMO.v8.3 online software were analyzed. Our findings show that the A allele at the -21 position creates a new potential binding site for PAX-6 and the T allele at the -262 position changes the TFII-I binding site into STAT4 response element. The PAX-6 and STAT4 are the multifunctional and enhancing transcription factors.

Keywords


1. Cross CE, Halliwell B, Borish ET, Pryor WA, Ames BN, Saul RL, McCord JM, Harman D. Oxygen radicals and human disease. Ann Intern Med 1987;107:526-455.

2. Guyton KZ, Kensler TW. Oxidative mechanisms in carcinogenesis. Br Med Bull 1993;49:523-544.

3. Zhang Y, Zhang L, Sun D, Li Z, Wang L, Liu P. Genetic polymorphisms of superoxide dismutases, catalase, and glutathione peroxidase in age-related cataract. Mol Vis 2011;17:2325-2332.

4. Saadat M, Saadat S. Genetic polymorphism of CAT C-262T and susceptibility to breast cancer, a case-control study and meta-analysis of the literatures. Pathol Oncol Res 2015;21:433-437.

5. Chang D, Hu ZL, Zhang L, Zhao YS, Meng QH, Guan QB, Zhou J, Pan HZ. Association of catalase genotype with oxidative stress in the predication of colorectal cancer: modification by epidemiological factors. Biomed Environ Sci 2012;2:156-162.

6. Ceriello A, Morocutti A, Mercuri F, Quagliaro L, Moro M, Damante G, Viberti GC. Defective intracellular antioxidant enzyme production in type 1 diabetic patients with nephropathy. Diabetes 2000;49:2170-2177.

7. Hodgkinson AD, Bartlett T, Oates PJ, Millward BA, Demaine AG. The response of antioxidant genes to hyperglycemia is abnormal in patients with type 1 diabetes and diabetic nephropathy. Diabetes 2003;52:846-851.

8. Zarei N, Saadat I, Farvardin-Jahromi M. The relationship between NQO1 C609T and CAT C-262T genetic polymorphisms and the risk of age-related cataracts. Mol Biol Res Commun 2015;3:143-149.

9. Ebrahimpour S, Saadat I. Association of CAT C-262T and SOD1 A251G single nucleotide polymorphisms susceptible to gastric cancer. Mol Biol Res Commun 2014;4:223-229.

10. Ahn J, NowellS,McCann SE, Yu J, Carter L, Lang NP, Kadlubar FF, Ratnasinghe LD, Ambrosone CB. Associations between catalase phenotype and genotype: modification by epidemiologic factors. Cancer Epidemiol Biomarkers Prev 2006;15:1217-1222.

11. Nadif R, Mintz M, Jedlicka A, Bertrand JP, Kleeberger SR, Kauffmann F. Association of CAT polymorphisms with catalase activity and exposure to environmental oxidative stimuli. Free Radic Res 2005;39:1345-1350.

12. Mishra S, Maurya SK, Srivastava K, Shukla S, Mishra R. Pax6 influences expression patterns of genes involved in neuro-degeneration. Ann Neurosci 2015; 4:226-231.

13. Hebert-Schuster M, Cottart CH, Laguillier-Morizot C, Raynaud-Simon A, Golmard JL, Cynober L, Beaudeux JL, Fabre EE, Nivet-Antoine V. Catalase rs769214 SNP in elderly malnutrition and during renutrition: is glucagon to blame? Free Radic Biol Med 2011;51:1583-1588.

14. Wang Y, Qu A, Wang H. Signal transducer and activator of transcription 4 in liver diseases. Int J BiolSci 2015;11:448-855.

15. de Andrade KQ, Moura FA, Dos Santos JM, de Araújo OR, de Farias Santos JC, Goulart MO. Oxidative stress and inflammation in hepatic diseases: therapeutic possibilities of N-acetylcysteine. Int J Mol Sci 2015;16:30269-30308.