Association investigation of BACH2 rs3757247 and SOD2 rs4880 polymorphisms with the type 1 diabetes and diabetes long-term complications risk in the Polish population

Wegner,Malgorzata; Mostowska,Adrianna; Araszkiewicz,Aleksandra; Choudhury,Mahua; Piorunska‑Stolzmann,Maria; Zozulinska‑Ziolkiewicz,Dorota; Wierusz‑Wysocka,Bogna; Jagodzinski,Pawel  P.

doi:10.3892/br.2015.424

Association investigation of BACH2 rs3757247 and SOD2 rs4880 polymorphisms with the type 1 diabetes and diabetes long-term complications risk in the Polish population

Authors:
- Malgorzata Wegner
- Adrianna Mostowska
- Aleksandra Araszkiewicz
- Mahua Choudhury
- Maria Piorunska‑Stolzmann
- Dorota Zozulinska‑Ziolkiewicz
- Bogna Wierusz‑Wysocka
- Pawel P. Jagodzinski
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Affiliations: Lipid Metabolism Laboratory, Department of General Chemistry, Chemistry and Clinical Biochemistry, Poznan University of Medical Sciences, Poznan 60‑780, Poland, Department of Biochemistry and Molecular Biology, Poznan University of Medical Sciences, Poznan 60‑781, Poland, Department of Internal Medicine and Diabetology, Poznan University of Medical Sciences, Poznan 60‑843, Poland, Department of Pharmaceutical Sciences, Texas A&M Health Science Center College of Pharmacy, Kingsville 78363, TX, USA, Department of Clinical Biochemistry and Laboratory Medicine, Chemistry and Clinical Biochemistry, Poznan University of Medical Sciences, Poznan 60‑780, Poland
Published online on: February 10, 2015 https://doi.org/10.3892/br.2015.424
Pages: 327-332

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Abstract

Genetic factors are indicated in the development of type 1 diabetes (DM1). Recently, nucleotide variants of BACH2 and SOD2 have been associated with this chronic condition. Therefore, the purpose of the present study was to investigate the contribution of BACH2 rs3757247 and SOD2 rs4880 (Ala16Val) polymorphisms to the risk of DM1 and diabetes long‑term complications. Selected polymorphic variants of BACH2 and SOD2 were investigated in a group of 141 patients with DM1 and in a group of age, gender‑matched healthy subjects (n=369) using a high‑resolution melting curve method. There was no evidence for either allelic or genotypic association with the risk of DM1 and diabetes chronic complications for analysed polymorphisms. In addition, no interaction between BACH2 and SOD2 variants in the development of this condition was observed. However, the frequency of BACH2 rs3757247 AG and AA genotypes was statistically different between DM1 patients with retinopathy and healthy individuals (odds ratio, 2.455; 95% confidence interval, 0.999‑6.035; P=0.044), but this result did not survive multiple testing corrections. The present study did not confirm the involvement of BACH2 rs3757247 and SOD2 rs4880 polymorphisms in the development of DM1 and diabetes long‑term complications. Further studies in a larger population sample are required.

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1	Watkins RA, Evans-Molina C, Blum JS and DiMeglio LA: Established and emerging biomarkers for the prediction of type 1 diabetes: A systematic review. Transl Res. 164:110–121. 2014. View Article : Google Scholar : PubMed/NCBI
2	Stankov K, Benc D and Draskovic D: Genetic and epigenetic factors in etiology of diabetes mellitus type 1. Pediatrics. 132:1112–1122. 2013. View Article : Google Scholar : PubMed/NCBI
3	Steck AK and Rewers MJ: Genetics of type 1 diabetes. Clin Chem. 57:176–185. 2011. View Article : Google Scholar : PubMed/NCBI
4	Wellcome Trust Case Control Consortium, . Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. Nature. 447:661–678. 2007. View Article : Google Scholar : PubMed/NCBI
5	Bakay M, Pandey R and Hakonarson H: Genes involved in type 1 diabetes: An update. Genes Basel. 4:499–521. 2013. View Article : Google Scholar : PubMed/NCBI
6	Sandholm N, Salem RM, McKnight AJ, et al: New susceptibility loci associated with kidney disease in type 1 diabetes. PLoS Genet. 8:e10029212012. View Article : Google Scholar : PubMed/NCBI
7	Huang YC, Lin JM, Lin HJ, Chen CC, Chen SY, Tsai CH and Tsai FJ: Genome-wide association study of diabetic retinopathy in a Taiwanese population. Ophthalmology. 118:642–648. 2011. View Article : Google Scholar : PubMed/NCBI
8	Grant SF, Qu HQ, Bradfield JP, et al: Follow-up analysis of genome-wide association data identifies novel loci for type 1 diabetes. Diabetes. 58:290–295. 2009. View Article : Google Scholar : PubMed/NCBI
9	Oyake T, Itoh K, Motohashi H, Hayashi N, Hoshino H, Nishizawa M, Yamamoto M and Igarashi K: Bach proteins belong to a novel family of BTB-basic leucine zipper transcription factors that interact with MafK and regulate transcription through the NF-E2 site. Mol Cell Biol. 16:6083–6095. 1996.PubMed/NCBI
10	Muto A, Tashiro S, Tsuchiya H, Kume A, Kanno M, Ito E, Yamamoto M and Igarashi K: Activation of Maf/AP-1 repressor Bach2 by oxidative stress promotes apoptosis and its interaction with promyelocytic leukemia nuclear bodies. J Biol Chem. 277:20724–20733. 2002. View Article : Google Scholar : PubMed/NCBI
11	Muto A, Tashiro S, Nakajima O, Hoshino H, Takahashi S, Sakoda E, Ikebe D, Yamamoto M and Igarashi K: The transcriptional programme of antibody class switching involves the repressor Bach2. Nature. 429:566–571. 2004. View Article : Google Scholar : PubMed/NCBI
12	Marroquí L, Santin I, Dos Santos RS, Marselli L, Marchetti P and Eizirik DL: BACH2, a candidate risk gene for type 1 diabetes, regulates apoptosis in pancreatic β-cells via JNK1 modulation and crosstalk with the candidate gene PTPN2. Diabetes. 63:2516–2527. 2014. View Article : Google Scholar : PubMed/NCBI
13	Tian C, Fang S, Du X and Jia C: Association of the C47T polymorphism in SOD2 with diabetes mellitus and diabetic microvascular complications: A meta-analysis. Diabetologia. 54:803–811. 2011. View Article : Google Scholar : PubMed/NCBI
14	Christianson DW: Structural chemistry and biology of manganese metalloenzymes. Prog Biophys Mol Biol. 67:217–252. 1997. View Article : Google Scholar : PubMed/NCBI
15	Sutton A, Khoury H, Prip-Buus C, Cepanec C, Pessayre D and Degoul F: The Ala16Val genetic dimorphism modulates the import of human manganese superoxide dismutase into rat liver mitochondria. Pharmacogenetics. 13:145–157. 2003. View Article : Google Scholar : PubMed/NCBI
16	Fiorentino TV, Prioletta A, Zuo P and Folli F: Hyperglycemia-induced oxidative stress and its role in diabetes mellitus related cardiovascular diseases. Curr Pharm Des. 19:5695–5703. 2013. View Article : Google Scholar : PubMed/NCBI
17	de M Bandeira S, da Fonseca LJ, da S Guedes G, Rabelo LA, Goulart MO and Vasconcelos SM: Oxidative stress as an underlying contributor in the development of chronic complications in diabetes mellitus. Int J Mol Sci. 14:3265–3284. 2013. View Article : Google Scholar : PubMed/NCBI
18	Chistyakov DA, Savostanov KV, Zotova EV and Nosikov VV: Polymorphisms in the Mn-SOD and EC-SOD genes and their relationship to diabetic neuropathy in type 1 diabetes mellitus. BMC Med Genet. 2:42001. View Article : Google Scholar : PubMed/NCBI
19	el-Masry TM, Zahra MA, el-Tawil MM and Khalifa RA: Manganese superoxide dismutase alanine to valine polymorphism and risk of neuropathy and nephropathy in Egyptian type 1 diabetic patients. Rev Diabet Stud. 2:70–74. 2005. View Article : Google Scholar : PubMed/NCBI
20	American Diabetes Association, . Standards of medical care in diabetes - 2007. Diabetes Care. 30 (Suppl 1):S4–S41. 2007. View Article : Google Scholar : PubMed/NCBI
21	Wilkinson CP, Ferris FL III, Klein RE, Lee PP, Agardh CD, Davis M, Dills D, Kampik A, Pararajasegaram R and Verdaguer JT: Proposed international clinical diabetic retinopathy and diabetic macular edema disease severity scales. Ophthalmology. 110:1677–1682. 2003. View Article : Google Scholar : PubMed/NCBI
22	KDOQI, . KDOQI clinical practice guidelines and clinical practice recommendations for diabetes and chronic kidney disease. Am J Kidney Dis. 49 (Suppl 2):S12–S154. 2007. View Article : Google Scholar : PubMed/NCBI
23	Jeppsson JO, Kobold U, Barr J, et al: Approved IFCC reference method for the measurement of HbA1c in human blood. Clin Chem Lab Med. 40:78–89. 2002. View Article : Google Scholar : PubMed/NCBI
24	Steck AK, Wong R, Wagner B, Johnson K, Liu E, Romanos J, Wijmenga C, Norris JM, Eisenbarth GS and Rewers MJ: Effects of non-HLA gene polymorphisms on development of islet autoimmunity and type 1 diabetes in a population with high-risk HLA-DR, DQ genotypes. Diabetes. 61:753–758. 2012. View Article : Google Scholar : PubMed/NCBI
25	de Graaff LC, Martín-Martorell P, Baan J, Ballieux B, Smit JW and Radder JK: Long-term follow-up of organ-specific antibodies and related organ dysfunction in type 1 diabetes mellitus. Neth J Med. 69:66–71. 2011.PubMed/NCBI
26	Plagnol V, Howson JM, Smyth DJ, et al: Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases. PLoS Genet. 7:e10022162011. View Article : Google Scholar : PubMed/NCBI
27	Tashiro S, Muto A, Tanimoto K, Tsuchiya H, Suzuki H, Hoshino H, Yoshida M, Walter J and Igarashi K: Repression of PML nuclear body-associated transcription by oxidative stress-activated Bach2. Mol Cell Biol. 24:3473–3484. 2004. View Article : Google Scholar : PubMed/NCBI
28	Tarr JM, Kaul K, Chopra M, Kohner EM and Chibber R: Pathophysiology of diabetic retinopathy. ISRN Ophthalmol. 2013:3435602013. View Article : Google Scholar : PubMed/NCBI
29	Hovnik T, Dolzan V, Bratina NU, Podkrajsek KT and Battelino T: Genetic polymorphisms in genes encoding antioxidant enzymes are associated with diabetic retinopathy in type 1 diabetes. Diabetes Care. 32:2258–2262. 2009. View Article : Google Scholar : PubMed/NCBI
30	Möllsten A, Marklund SL, Wessman M, Svensson M, Forsblom C, Parkkonen M, Brismar K, Groop PH and Dahlquist G: A functional polymorphism in the manganese superoxide dismutase gene and diabetic nephropathy. Diabetes. 56:265–269. 2007. View Article : Google Scholar : PubMed/NCBI
31	Nomiyama T, Tanaka Y, Piao L, Nagasaka K, Sakai K, Ogihara T, Nakajima K, Watada H and Kawamori R: The polymorphism of manganese superoxide dismutase is associated with diabetic nephropathy in Japanese type 2 diabetic patients. J Hum Genet. 48:138–141. 2003.PubMed/NCBI
32	Flekac M1, Skrha J, Hilgertova J, Lacinova Z and Jarolimkova M: Gene polymorphisms of superoxide dismutases and catalase in diabetes mellitus. BMC Med Genet. 9:302008. View Article : Google Scholar : PubMed/NCBI
33	Wang LI, Miller DP, Sai Y, Liu G, Su L, Wain JC, Lynch TJ and Christiani DC: Manganese superoxide dismutase alanine-to-valine polymorphism at codon 16 and lung cancer risk. J Natl Cancer Inst. 93:1818–1821. 2001. View Article : Google Scholar : PubMed/NCBI
34	Pedro RA, Ramon SA, Marc BB, Juan FB and Isabel MM: Prevalence and relationship between diabetic retinopathy and nephropathy, and its risk factors in the North-East of Spain, a population-based study. Ophthalmic Epidemiol. 17:251–265. 2010. View Article : Google Scholar : PubMed/NCBI