Genetic Polymorphisms of Catalase and Glutathione Peroxidase-1 in Keratoconus
,
Abstract
Background: Keratoconus (KC) is a degenerative eye disease which results from thinning of the cornea and causes vision distortion. Oxidative stress damage to KC corneas may be because of the failure of corneas to process reactive oxygen species which leads to corneal thinning and loss of vision. Genetic variants in antioxidant defense genes such as catalase (CAT) and glutathione peroxidase (GPX) can decrease antioxidant capacity or increase oxidative stress and alter the risk of KC in patients. We investigated and evaluated the effects of single nucleotide polymorphisms in CAT, GPX-1 on the risk of KC in an Iranian population sample.
Methods: This case-control study was performed on 140 patients with KC and 150 healthy control subjects in a sample of Iranian population from Zahedan, southern Iran in 2015. Genotyping of CAT rs7943316 and GPX-1 rs1050450 polymorphisms was done using polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP) method.
Results: CAT rs7943316 A/T, AA genotype and A allele have a protective role against disease (OR =0.28, 95% CI =0.13-0.61, P=0.001 and OR = 0.50, 95% CI =0.35-0.72, P=0.0001, respectively) and decreased the risk of KC. Moreover, GPX-1 rs1050450 T allele increased the risk of KC in comparison with C allele (OR = 1.42, 95% CI = 1.01-2.03, P=0.03).
Conclusion: CAT rs7943316 A/T, AA genotype, and A allele decreased the risk of KC. Moreover, in GPX-1 rs1050450 C/T polymorphism, T allele was associated with an increased risk of KC in our population.
1. Cuellar-Partida G, Springelkamp H, Lucas SE et al (2015). WNT10A exonic variant increases the risk of keratoconus by decreasing corneal thickness. Hum Mol Genet,24(17):5060-8.
2. Wheeler J, Hauser MA, Afshari NA et al (2012). The Genetics of Keratoconus: A Review. Reprod Syst Sex Disord, (Suppl 6):001.
3. Rabinowitz YS (1998). Keratoconus. Surv Ophthalmol,42(4):297-319.
4. Kang PC, Klintworth GK, Kim T et al (2005). Trends in the indications for penetrating keratoplasty, 1980-2001. Cornea, 24(7):801-3.
5. Romero-Jimenez M, Santodomingo-Rubido J, Wolffsohn JS (2010). Keratoconus: a review. Cont Lens Anterior Eye,33(4):157-66.
6. Saee-Rad S, Hashemi H, Miraftab M et al (2011). Mutation analysis of VSX1 and SOD1 in Iranian patients with keratoconus. Mol Vis,17:3128-36.
7. Stabuc-Silih M, Strazisar M, Ravnik-Glavac M et al (2010). Genetics and clinical characteristics of keratoconus. Acta Dermatovenerol Alp Pannonica Adriat, 19(2):3-10.
8. Sugar J, Macsai MS (2012). What causes keratoconus? Cornea, 31(6):716-9.
9. Davidson AE, Hayes S, Hardcastle AJ et al (2014). The pathogenesis of keratoconus. Eye (Lond),28(2):189-95.
10. Cristina Kenney M, Brown DJ (2003). The cascade hypothesis of keratoconus. Cont Lens Anterior Eye,26(3):139-46.
11. Esterbauer H, Schaur RJ, Zollner H (1991). Chemistry and biochemistry of 4-hydroxynonenal, malonaldehyde and related aldehydes. Free Radic Biol Med,11(1):81-128.
12. Squadrito GL, Pryor WA (1998). Oxidative chemistry of nitric oxide: the roles of superoxide, peroxynitrite, and carbon dioxide. Free Radic Biol Med,25(4-5):392-403.
13. Kirkman HN, Gaetani GF (1984). Catalase: a tetrameric enzyme with four tightly bound molecules of NADPH. Proc Natl Acad Sci U S A,81(14):4343-7.
14. Sabet EE, Salehi Z, Khodayari S et al (2014). Polymorphisms of glutathione peroxidase 1 (GPX1 Pro198Leu) and catalase (CAT C-262T) in women with spontaneous abortion. Syst Biol Reprod Med, 60(5):304-7.
15. Yung LM, Leung FP, Yao X et al (2006). Reactive oxygen species in vascular wall. Cardiovasc Hematol Disord Drug Targets,6(1):1-19.
16. Flekac M, Skrha J, Hilgertova J et al (2008). Gene polymorphisms of superoxide dismutases and catalase in diabetes mellitus. BMC Med Genet, 9:30.
17. Vitai M, Fatrai S, Rass P et al (2005). Simple PCR heteroduplex, SSCP mutation screening methods for the detection of novel catalase mutations in Hungarian patients with type 2 diabetes mellitus. Clin Chem Lab Med,43(12):1346-50.
18. Bera S, Weinberg F, Ekoue DN et al (2014). Natural allelic variations in glutathione peroxidase-1 affect its subcellular localization and function. Cancer Res,74(18):5118-26.
19. Lubos E, Loscalzo J, Handy DE (2011). Glutathione peroxidase-1 in health and disease: from molecular mechanisms to therapeutic opportunities. Antioxid Redox Signal,15(7):1957-97.
20. Goldberg M, Alberts DS, Buckmeier JA et al (2011). Loss of heterozygosity at the glutathione peroxidase 1 locus is not an early event in colon carcinogenesis. Genes Cancer, 2(9):910-913.
21. Crawford A, Fassett RG, Geraghty DP et al (2012). Relationships between single nucleotide polymorphisms of antioxidant enzymes and disease. Gene, 501(2):89-103.
22. Nemoto M, Nishimura R, Sasaki T et al (2007). Genetic association of glutathione peroxidase-1 with coronary artery calcification in type 2 diabetes: a case control study with multi-slice computed tomography. Cardiovasc Diabetol, 6:23.
23. Saravani R, Hasanian-Langroudi F, Validad MH et al (2015). Evaluation of possible relationship between COL4A4 gene polymorphisms and risk of keratoconus. Cornea, 34(3):318-22.
24. Hashemi M, Yousefi J, Hashemi SM et al (2015). Association between Programmed Cell Death 6 Interacting Protein Insertion/Deletion Polymorphism and the Risk of Breast Cancer in a Sample of Iranian Population. Dis Markers, 2015:854621.
25. Saravani S, Miri HR, Saravani R et al (2015). Association of catalase (rs7943316) and glutathione peroxidase-1 (rs1050450) polymorphisms with the risk of type 2 diabetes (T2DM). Mol Gen Mikrobiol Virusol, 30(4):216-20.
26. McMonnies CW (2015). Inflammation and keratoconus. Optom Vis Sci, 92(2):e35-41.
27. Behndig A, Karlsson K, Johansson BO et al (2001). Superoxide dismutase isoenzymes in the normal and diseased human cornea. Invest Ophthalmol Vis Sci, 42(10):2293-6.
28. Matough FA, Budin SB, Hamid ZA et al (2012). The role of oxidative stress and antioxidants in diabetic complications. Sultan Qaboos Univ Med J, 12(1):5-18.
29. Gordon-Shaag A, Millodot M, Shneor E et al (2015). The Genetic and Environmental Factors for Keratoconus. Biomed Res Int, 2015:795738.
30. Mihail S (1989). [The eye and ultraviolet radiation]. Rev Chir Oncol Radiol O R L Oftalmol Stomatol Ser Oftalmol,33(4):241-4.
31. Shoham A, Hadziahmetovic M, Dunaief JL et al (2008). Oxidative stress in diseases of the human cornea. Free Radic Biol Med,45(8):1047-55.
32. Atilano SR, Coskun P, Chwa M et al (2005). Accumulation of mitochondrial DNA damage in keratoconus corneas. Invest Ophthalmol Vis Sci, 46(4):1256-63.
33. Buddi R, Lin B, Atilano SR et al (2002). Evidence of oxidative stress in human corneal diseases. J Histochem Cytochem,50(3):341-51.
34. Gondhowiardjo TD, van Haeringen NJ (1993). Corneal aldehyde dehydrogenase, glutathione reductase, and glutathione S-transferase in pathologic corneas. Cornea,12(4):310-4.
35. Arnal E, Peris-Martinez C, Menezo JL et al (2011). Oxidative stress in keratoconus? Invest Ophthalmol Vis Sci,52(12):8592-7.
36. Kenney MC, Chwa M, Atilano SR et al (2005). Increased levels of catalase and cathepsin V/L2 but decreased TIMP-1 in keratoconus corneas: evidence that oxidative stress plays a role in this disorder. Invest Ophthalmol Vis Sci,46(3):823-32.
37. Xiong YM, Mo XY, Zou XZ et al (2010). Association study between polymorphisms in selenoprotein genes and susceptibility to Kashin-Beck disease. Osteoarthritis Cartilage,18(6):817-24.
38. Steinbrecher A, Meplan C, Hesketh J et al (2010). Effects of selenium status and polymorphisms in selenoprotein genes on prostate cancer risk in a prospective study of European men. Cancer Epidemiol Biomarkers Prev,19(11):2958-68.
39. Tang TS, Prior SL, Li KW et al (2012). Association between the rs1050450 glutathione peroxidase-1 (C > T) gene variant and peripheral neuropathy in two independent samples of subjects with diabetes mellitus. Nutr Metab Cardiovasc Dis,22(5):417-25.
40. Khadzhieva MB, Lutcenko NN, Volodin IV et al (2014). Association of oxidative stress-related genes with idiopathic recurrent miscarriage. Free Radic Res,48(5):534-41.
41. Zhang Y, Zhang L, Sun D et al (2011). Genetic polymorphisms of superoxide dismutases, catalase, and glutathione peroxidase in age-related cataract. Mol Vis,17:2325-32.
42. Wojcik KA, Synowiec E, Sobierajczyk K et al (2014). Polymorphism of the DNA base excision repair genes in keratoconus. Int J Mol Sci,15(11):19682-99.
43. Wojcik KA, Synowiec E, Polakowski P et al (2014). Polymorphism of the flap endonuclease 1 gene in keratoconus and Fuchs endothelial corneal dystrophy. Int J Mol Sci,15(8):14786-802.
44. Poh R, Tan JA, Deva JP et al (2012). Paraoxonase 1 status in keratoconus: a preliminary study of activity and polymorphism. West Indian Med J,61(6):569-73.
2. Wheeler J, Hauser MA, Afshari NA et al (2012). The Genetics of Keratoconus: A Review. Reprod Syst Sex Disord, (Suppl 6):001.
3. Rabinowitz YS (1998). Keratoconus. Surv Ophthalmol,42(4):297-319.
4. Kang PC, Klintworth GK, Kim T et al (2005). Trends in the indications for penetrating keratoplasty, 1980-2001. Cornea, 24(7):801-3.
5. Romero-Jimenez M, Santodomingo-Rubido J, Wolffsohn JS (2010). Keratoconus: a review. Cont Lens Anterior Eye,33(4):157-66.
6. Saee-Rad S, Hashemi H, Miraftab M et al (2011). Mutation analysis of VSX1 and SOD1 in Iranian patients with keratoconus. Mol Vis,17:3128-36.
7. Stabuc-Silih M, Strazisar M, Ravnik-Glavac M et al (2010). Genetics and clinical characteristics of keratoconus. Acta Dermatovenerol Alp Pannonica Adriat, 19(2):3-10.
8. Sugar J, Macsai MS (2012). What causes keratoconus? Cornea, 31(6):716-9.
9. Davidson AE, Hayes S, Hardcastle AJ et al (2014). The pathogenesis of keratoconus. Eye (Lond),28(2):189-95.
10. Cristina Kenney M, Brown DJ (2003). The cascade hypothesis of keratoconus. Cont Lens Anterior Eye,26(3):139-46.
11. Esterbauer H, Schaur RJ, Zollner H (1991). Chemistry and biochemistry of 4-hydroxynonenal, malonaldehyde and related aldehydes. Free Radic Biol Med,11(1):81-128.
12. Squadrito GL, Pryor WA (1998). Oxidative chemistry of nitric oxide: the roles of superoxide, peroxynitrite, and carbon dioxide. Free Radic Biol Med,25(4-5):392-403.
13. Kirkman HN, Gaetani GF (1984). Catalase: a tetrameric enzyme with four tightly bound molecules of NADPH. Proc Natl Acad Sci U S A,81(14):4343-7.
14. Sabet EE, Salehi Z, Khodayari S et al (2014). Polymorphisms of glutathione peroxidase 1 (GPX1 Pro198Leu) and catalase (CAT C-262T) in women with spontaneous abortion. Syst Biol Reprod Med, 60(5):304-7.
15. Yung LM, Leung FP, Yao X et al (2006). Reactive oxygen species in vascular wall. Cardiovasc Hematol Disord Drug Targets,6(1):1-19.
16. Flekac M, Skrha J, Hilgertova J et al (2008). Gene polymorphisms of superoxide dismutases and catalase in diabetes mellitus. BMC Med Genet, 9:30.
17. Vitai M, Fatrai S, Rass P et al (2005). Simple PCR heteroduplex, SSCP mutation screening methods for the detection of novel catalase mutations in Hungarian patients with type 2 diabetes mellitus. Clin Chem Lab Med,43(12):1346-50.
18. Bera S, Weinberg F, Ekoue DN et al (2014). Natural allelic variations in glutathione peroxidase-1 affect its subcellular localization and function. Cancer Res,74(18):5118-26.
19. Lubos E, Loscalzo J, Handy DE (2011). Glutathione peroxidase-1 in health and disease: from molecular mechanisms to therapeutic opportunities. Antioxid Redox Signal,15(7):1957-97.
20. Goldberg M, Alberts DS, Buckmeier JA et al (2011). Loss of heterozygosity at the glutathione peroxidase 1 locus is not an early event in colon carcinogenesis. Genes Cancer, 2(9):910-913.
21. Crawford A, Fassett RG, Geraghty DP et al (2012). Relationships between single nucleotide polymorphisms of antioxidant enzymes and disease. Gene, 501(2):89-103.
22. Nemoto M, Nishimura R, Sasaki T et al (2007). Genetic association of glutathione peroxidase-1 with coronary artery calcification in type 2 diabetes: a case control study with multi-slice computed tomography. Cardiovasc Diabetol, 6:23.
23. Saravani R, Hasanian-Langroudi F, Validad MH et al (2015). Evaluation of possible relationship between COL4A4 gene polymorphisms and risk of keratoconus. Cornea, 34(3):318-22.
24. Hashemi M, Yousefi J, Hashemi SM et al (2015). Association between Programmed Cell Death 6 Interacting Protein Insertion/Deletion Polymorphism and the Risk of Breast Cancer in a Sample of Iranian Population. Dis Markers, 2015:854621.
25. Saravani S, Miri HR, Saravani R et al (2015). Association of catalase (rs7943316) and glutathione peroxidase-1 (rs1050450) polymorphisms with the risk of type 2 diabetes (T2DM). Mol Gen Mikrobiol Virusol, 30(4):216-20.
26. McMonnies CW (2015). Inflammation and keratoconus. Optom Vis Sci, 92(2):e35-41.
27. Behndig A, Karlsson K, Johansson BO et al (2001). Superoxide dismutase isoenzymes in the normal and diseased human cornea. Invest Ophthalmol Vis Sci, 42(10):2293-6.
28. Matough FA, Budin SB, Hamid ZA et al (2012). The role of oxidative stress and antioxidants in diabetic complications. Sultan Qaboos Univ Med J, 12(1):5-18.
29. Gordon-Shaag A, Millodot M, Shneor E et al (2015). The Genetic and Environmental Factors for Keratoconus. Biomed Res Int, 2015:795738.
30. Mihail S (1989). [The eye and ultraviolet radiation]. Rev Chir Oncol Radiol O R L Oftalmol Stomatol Ser Oftalmol,33(4):241-4.
31. Shoham A, Hadziahmetovic M, Dunaief JL et al (2008). Oxidative stress in diseases of the human cornea. Free Radic Biol Med,45(8):1047-55.
32. Atilano SR, Coskun P, Chwa M et al (2005). Accumulation of mitochondrial DNA damage in keratoconus corneas. Invest Ophthalmol Vis Sci, 46(4):1256-63.
33. Buddi R, Lin B, Atilano SR et al (2002). Evidence of oxidative stress in human corneal diseases. J Histochem Cytochem,50(3):341-51.
34. Gondhowiardjo TD, van Haeringen NJ (1993). Corneal aldehyde dehydrogenase, glutathione reductase, and glutathione S-transferase in pathologic corneas. Cornea,12(4):310-4.
35. Arnal E, Peris-Martinez C, Menezo JL et al (2011). Oxidative stress in keratoconus? Invest Ophthalmol Vis Sci,52(12):8592-7.
36. Kenney MC, Chwa M, Atilano SR et al (2005). Increased levels of catalase and cathepsin V/L2 but decreased TIMP-1 in keratoconus corneas: evidence that oxidative stress plays a role in this disorder. Invest Ophthalmol Vis Sci,46(3):823-32.
37. Xiong YM, Mo XY, Zou XZ et al (2010). Association study between polymorphisms in selenoprotein genes and susceptibility to Kashin-Beck disease. Osteoarthritis Cartilage,18(6):817-24.
38. Steinbrecher A, Meplan C, Hesketh J et al (2010). Effects of selenium status and polymorphisms in selenoprotein genes on prostate cancer risk in a prospective study of European men. Cancer Epidemiol Biomarkers Prev,19(11):2958-68.
39. Tang TS, Prior SL, Li KW et al (2012). Association between the rs1050450 glutathione peroxidase-1 (C > T) gene variant and peripheral neuropathy in two independent samples of subjects with diabetes mellitus. Nutr Metab Cardiovasc Dis,22(5):417-25.
40. Khadzhieva MB, Lutcenko NN, Volodin IV et al (2014). Association of oxidative stress-related genes with idiopathic recurrent miscarriage. Free Radic Res,48(5):534-41.
41. Zhang Y, Zhang L, Sun D et al (2011). Genetic polymorphisms of superoxide dismutases, catalase, and glutathione peroxidase in age-related cataract. Mol Vis,17:2325-32.
42. Wojcik KA, Synowiec E, Sobierajczyk K et al (2014). Polymorphism of the DNA base excision repair genes in keratoconus. Int J Mol Sci,15(11):19682-99.
43. Wojcik KA, Synowiec E, Polakowski P et al (2014). Polymorphism of the flap endonuclease 1 gene in keratoconus and Fuchs endothelial corneal dystrophy. Int J Mol Sci,15(8):14786-802.
44. Poh R, Tan JA, Deva JP et al (2012). Paraoxonase 1 status in keratoconus: a preliminary study of activity and polymorphism. West Indian Med J,61(6):569-73.
| Files | ||
| Issue | Vol 47 No 10 (2018) | |
| Section | Original Article(s) | |
| Keywords | ||
| CAT, GPX-1, Oxidative stress, Keratoconus, Polymorphism | ||
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How to Cite
1.
YARI D, SARAVANI R, SARAVANI S, EBRAHIMIAN K, GALAVI HR. Genetic Polymorphisms of Catalase and Glutathione Peroxidase-1 in Keratoconus. Iran J Public Health. 2018;47(10):1567-1574.
