Polymorphisms of the UCP2 gene are associated with glomerular filtration rate in type 2 diabetic patients and with decreased UCP2 gene expression in human kidney

PLoS ONE

Volumn 10, Issue 7, 2015, Pages

  De Souza, Bianca Marmontel ^a,b   Michels, Marcus ^a   Sortica, Denise Alves ^a,b   Bouças, Ana Paula ^a,b   Rheinheimer, Jakeline ^a,b   Buffon, Marjoriê Piuco ^a,b   Bauer, Andrea Carla ^a   Canani, Luís Henrique ^a,b   Crispim, Daisy ^a,b  

^a HOSPITAL DE CLÍNICAS DE PORTO ALEGRE   (Brazil)

^b FEDERAL UNIVERSITY OF RIO GRANDE DO SUL   (Brazil)

Author keywords

[No Author keywords available]

Indexed keywords

UNCOUPLING PROTEIN 2; ION CHANNEL; MITOCHONDRIAL PROTEIN; UCP2 PROTEIN, HUMAN;

ADULT; ALLELE; ARTICLE; BLOOD PRESSURE MEASUREMENT; BODY MASS; CASE CONTROL STUDY; CONTROLLED STUDY; DIABETIC NEPHROPATHY; DISEASE DURATION; FEMALE; GENE DELETION; GENE EXPRESSION; GENE FREQUENCY; GENE FUNCTION; GENE INSERTION; GENE MUTATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC POLYMORPHISM; GENOTYPE; GLOMERULUS FILTRATION RATE; HAPLOTYPE; HUMAN; HUMAN TISSUE; MAJOR CLINICAL STUDY; MALE; NON INSULIN DEPENDENT DIABETES MELLITUS; QUANTITATIVE ANALYSIS; REAL TIME POLYMERASE CHAIN REACTION; UCP2 GENE; AMINO ACID SUBSTITUTION; BIOSYNTHESIS; CLINICAL TRIAL; GENE EXPRESSION REGULATION; GENETICS; KIDNEY; METABOLISM; MISSENSE MUTATION; PATHOLOGY;

ADULT; AMINO ACID SUBSTITUTION; DIABETES MELLITUS, TYPE 2; DIABETIC NEPHROPATHIES; FEMALE; GENE EXPRESSION REGULATION; GLOMERULAR FILTRATION RATE; HUMANS; ION CHANNELS; KIDNEY; MALE; MITOCHONDRIAL PROTEINS; MUTATION, MISSENSE; UNCOUPLING PROTEIN 2;

EID: 84941648798     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0132938     Document Type: Article

References (50)

1. Carpena M, Rados D, Sortica D, Souza B, Reis A, Canani L, et al. Genetics of diabetic nephropathy. Arq Bras Endocrinol Metabol. 2010; 54: 253-261. PMID: 20520954
2. Gross JL, de Azevedo MJ, Silveiro SP, Canani LH, Caramori ML, Zelmanovitz T. Diabetic Nephropathy: Diagnosis, Prevention, and Treatment. Diabetes Care. 2005; 28: 164-176. PMID: 15616252
3. Gross JL, Silveiro SP, Canani LH, Friedman R, Leitão CB, Azevedo MJ. Nefropatia Diabética e Doença Cardíaca. Arq Bras Endocrinol Metabol. 2007; 51: 244-256. PMID: 17505631
4. Ritz E, Zeng XX, Rychlik I. Clinical manifestation and natural history of diabetic nephropathy. Contrib Nephrol. 2011; 170: 19-27. doi: 10.1159/000324939 PMID: 21659754
5. Zelmanovitz T, Gerchman F, Balthazar AP, Thomazelli FC, Matos JD, Canani LH. Diabetic nephropathy. Diabetol Metab Syndr. 2009; 1: 10. doi: 10.1186/1758-5996-1-10 PMID: 19825147
6. Rich SS. Genetics of Diabetes and Its Complications. J Am Soc Nephrol. 2006; 17: 353-360. PMID: 16394110
7. Doria A. Genetics of diabetes complications. Curr Diab Rep. 2010; 10: 467-475. doi: 10.1007/s11892- 010-0147-x PMID: 20835900
8. Canani LH, Gerchman F, Gross JL. Familial clustering of diabetic nephropathy in Brazilian type 2 diabetic patients. Diabetes. 1999; 48: 909-913. PMID: 10102711
9. Pezzolesi MG, Krolewski AS. The genetic risk of kidney disease in type 2 diabetes. Med Clin North Am. 2013; 97: 91-107. doi: 10.1016/j.mcna.2012.10.005 PMID: 23290732
10. Brownlee M. The pathobiology of diabetic complications: a unifying mechanism. Diabetes. 2005; 54: 1615-1625. PMID: 15919781
11. Du XL, Edelstein D, Rossetti L, Fantus IG, Goldberg H, Ziyadeh F, et al. Hyperglycemia-induced mitochondrial superoxide overproduction activates the hexosamine pathway and induces plasminogen activator inhibitor-1 expression by increasing Sp1 glycosylation. Proc Natl Acad Sci U S A. 2000; 97: 12222-12226. PMID: 11050244
12. Souza BM, Assmann TS, Kliemann LM, Gross JL, Canani LH, Crispim D. The role of uncoupling protein 2 (UCP2) on the development of type 2 diabetes mellitus and its chronic complications. Arq Bras Endocrinol Metabol. 2011; 55: 239-248. PMID: 21779625
13. Fisler J, Warden C. Uncoupling proteins, dietary fat and the metabolic syndrome. Nutr & Metab. 2006; 3 38
14. Cui Y, Xu X, Bi H, Zhu Q, Wu J, Xia X, et al. Expression modification of uncoupling proteins and MnSOD in retinal endothelial cells and pericytes induced by high glucose: The role of reactive oxygen species in diabetic retinopathy. Exp Eye Res. 2006; 83: 807-816. PMID: 16750827
15. Erlanson-Albertsson C. Uncoupling proteins-a new family of proteins with unknown function. Nutr Neurosci. 2002; 5: 1-11. PMID: 11929192
16. Friederich M, Fasching A, Hansell P, Nordquist L, Palm F. Diabetes-induced up-regulation of uncoupling protein-2 results in increased mitochondrial uncoupling in kidney proximal tubular cells. Biochim Biophys Acta. 2008: 7
17. Donadelli M, Dando I, Fiorini C, Palmieri M. UCP2, a mitochondrial protein regulated at multiple levels. Cell Mol Life Sci. 2014; 71: 1171-1190. doi: 10.1007/s00018-013-1407-0 PMID: 23807210
18. Azzu V, Brand MD. The on-off switches of the mitochondrial uncoupling proteins. Trends Biochem Sci. 2010; 35: 298-307. doi: 10.1016/j.tibs.2009.11.001 PMID: 20006514
19. Fleury C, Neverova M, Collins S, Raimbault S, Champigny O, Levi-Meyrueis C, et al. Uncoupling protein- 2: a novel gene linked to obesity and hyperinsulinemia. Nat Genet. 1997; 15: 269-272. PMID: 9054939
20. Dalgaard LT. Genetic Variance in Uncoupling Protein 2 in Relation to Obesity, Type 2 Diabetes, and Related Metabolic Traits: Focus on the Functional -866G>A Promoter Variant (rs659366). J Obes. 2011; 2011: 340241. doi: 10.1155/2011/340241 PMID: 21603268
21. Jia JJ, Zhang X, Ge CR, Jois M. The polymorphisms of UCP2 and UCP3 genes associated with fat metabolism, obesity and diabetes. Obes Rev. 2009; 10: 519-526. doi: 10.1111/j.1467-789X.2009. 00569.x PMID: 19413708
22. Crispim D, Fagundes N, dos Santos K, Rheinheimer J, Bouças A, de Souza B, et al. Polymorphisms of the UCP2 gene are associated with proliferative diabetic retinopathy in patients with diabetes mellitus. Clin Endocrinol (Oxf). 2010; 72: 612-619
23. de Souza BM, Assmann TS, Kliemann LM, Marcon AS, Gross JL, Canani LH, et al. The presence of the -866A/55Val/Ins haplotype in the uncoupling protein 2 (UCP2) gene is associated with decreased UCP2 gene expression in human retina. Exp Eye Res. 2012; 94: 49-55. doi: 10.1016/j.exer.2011.11. 004 PMID: 22134120
24. Canani LH, Capp C, Ng DPK, Choo SGL, Maia AL, Nabinger GB, et al. The Fatty Acid-Binding Protein- 2 A54T Polymorphism Is Associated With Renal Disease in Patients With Type 2 Diabetes. Diabetes. 2005; 54: 3326-3330. PMID: 16249461
25. American Diabetes Association. Diagnosis and classification of diabetes mellitus. Diabetes Care. 2013; 36 Suppl 1: S67-74. doi: 10.2337/dc13-S067 PMID: 23264425
26. Brondani LA, Assmann TS, de Souza BM, Boucas AP, Canani LH, Crispim D. Meta-analysis reveals the association of common variants in the uncoupling protein (UCP) 1-3 genes with body mass index variability. PLoS ONE. 2014; 9: e96411. doi: 10.1371/journal.pone.0096411 PMID: 24804925
27. KDIGO Group. KDIGO 2012 clinical practice guideline for the evaluation and management of chronic kidney disease. Kidney Int. 2013;Suppl: : S1-S150
28. Wilkinson CP, Ferris FL 3rd, Klein RE, Lee PP, Agardh CD, Davis M, et al. Proposed international clinical diabetic retinopathy and diabetic macular edema disease severity scales. Ophthalmol. 2003; 110: 1677-1682
29. Camargo JL, Zelmanovitz T, Paggi A, Friedman R, Gross JL. Accuracy of conversion formulae for estimation of glycohaemoglobin. Scand J Clin Lab Invest. 1998; 58: 521-528. PMID: 9832345
30. Zelmanovitz T, Gross JL, Oliveira JR, Paggi A, Tatsch M, Azevedo MJ. The receiver operating characteristics curve in the evaluation of a random urine specimen as a screening test for diabetic nephropathy. Diabetes Care. 1997; 20: 516-519. PMID: 9096972
31. Bustin SA, Benes V, Garson JA, Hellemans J, Huggett J, Kubista M, et al. The MIQE guidelines: minimum information for publication of quantitative real-time PCR experiments. Clin Chem. 2009; 55: 611-622. doi: 10.1373/clinchem.2008.112797 PMID: 19246619
32. Higuchi R, Fockler C, Dollinger G, Watson R. Kinetic PCR analysis: real-time monitoring of DNA amplification reactions. Biotechnology (N Y). 1993; 11: 1026-1030
33. Livak KJ, Schmittgen TD. Analysis of relative gene expression data using real-time quantitative PCR and the 2(-Delta Delta C(T)) Method. Methods. 2001; 25: 402-408. PMID: 11846609
34. Stephens M, Smith NJ, Donnelly P. A new statistical method for haplotype reconstruction from population data. Am J Hum Genet. 2001; 68: 978-989. PMID: 11254454
35. de Souza BM, Brondani LA, Boucas AP, Sortica DA, Kramer CK, Canani LH, et al. Associations between UCP1 -3826A/G, UCP2 -866G/A, Ala55Val and Ins/Del, and UCP3 -55C/T polymorphisms and susceptibility to type 2 diabetes mellitus: case-control study and meta-analysis. PLoS ONE. 2013; 8: e54259. doi: 10.1371/journal.pone.0054259 PMID: 23365654
36. Cannon B, Shabalina IG, Kramarova TV, Petrovic N, Nedergaard J. Uncoupling proteins: A role in protection against reactive oxygen species-or not? Biochimica et Biophysica Acta (BBA)-Bioenergetics. 2006; 1757: 449-458
37. Rudofsky G Jr., Schroedter A, Schlotterer A, Voron'ko OE, Schlimme M, Tafel J, et al. Functional Polymorphisms of UCP2 and UCP3 Are Associated With a Reduced Prevalence of Diabetic Neuropathy in Patients With Type 1 Diabetes. Diabetes Care. 2006; 29: 89-94. PMID: 16373902
38. Rudofsky G Jr., Schrodter A, Voron'ko OE, Schlotterer A, Humpert PM, Tafel J, et al. Promoter polymorphisms of UCP1, UCP2, and UCP3 are not associated with diabetic microvascular complications in type 2 diabetes. Horm Metab Res. 2007; 39: 306-309. PMID: 17447170
39. Lindholm E, Klannemark M, Agardh E, Groop L, Agardh C-D. Putative role of polymorphisms in UCP1- 3 genes for diabetic nephropathy. J Diabetes Complications. 2004; 18: 103-107. PMID: 15120704
40. Tripathi G, Sharma RK, Baburaj VP, Sankhwar SN, Jafar T, Agrawal S. Genetic risk factors for renal failure among North Indian ESRD patients. Clin Biochem. 2008; 41: 525-531. doi: 10.1016/j. clinbiochem.2008.01.009 PMID: 18242170
41. Cassell PG, Neverova M, Janmohamed S, Uwakwe N, Qureshi A, McCarthy MI, et al. An uncoupling protein 2 gene variant is associated with a raised body mass index but not Type II diabetes. Diabetologia. 1999; 42: 688-692. PMID: 10382588
42. Esterbauer H, Schneitler C, Oberkofler H, Ebenbichler C, Paulweber B, Sandhofer F, et al. A common polymorphism in the promoter of UCP2 is associated with decreased risk of obesity in middle-aged humans. Nat Genet. 2001; 28: 178-183. PMID: 11381268
43. Walder K, Norman RA, Hanson RL, Schrauwen P, Neverova M, Jenkinson CP, et al. Association between uncoupling protein polymorphisms (UCP2-UCP3) and energy metabolism/obesity in Pima indians. Hum Mol Genet. 1998; 7: 1431-1435. PMID: 9700198
44. Oberkofler H, Dallinger G, Liu YM, Hell E, Krempler F, Patsch W. Uncoupling protein gene: quantification of expression levels in adipose tissues of obese and non-obese humans. J Lipid Res. 1997; 38: 2125-2133. PMID: 9374134
45. Wang H, Chu W, Lu T, Hasstedt S, Kern P, Elbein S. Uncoupling protein-2 polymorphisms in type 2 diabetes, obesity, and insulin secretion. Am J Physiol Endocrinol Metab. 2004; 286: E1-7. PMID: 12915397
46. Oberkofler H, Iglseder B, Klein K, Unger J, Haltmayer M, Krempler F, et al. Associations of the UCP2 gene locus with asymptomatic carotid atherosclerosis in middle-aged women. Arterioscler Thromb Vasc Biol. 2005; 25: 604-610. PMID: 15604415
47. Dhamrait SS, Stephens JW, Cooper JA, Acharya J, Mani AR, Moore K, et al. Cardiovascular risk in healthy men and markers of oxidative stress in diabetic men are associated with common variation in the gene for uncoupling protein 2. Eur Heart J. 2004; 25: 468-475. PMID: 15039126
48. Chen XL, Tang WX, Tang XH, Qin W, Gong M. Downregulation of uncoupling protein-2 by genipin exacerbates diabetes-induced kidney proximal tubular cells apoptosis. Ren Fail. 2014; 36: 1298-1303. doi: 10.3109/0886022X.2014.930650 PMID: 24964191
49. He Y, Wang N, Shen Y, Zheng Z, Xu X. Inhibition of high glucose-induced apoptosis by uncoupling protein 2 in human umbilical vein endothelial cells. Int J Mol Med. 2014; 33: 1275-1281. doi: 10.3892/ijmm. 2014.1676 PMID: 24584700
50. Qiu W, Zhou Y, Jiang L, Fang L, Chen L, Su W, et al. Genipin inhibits mitochondrial uncoupling protein 2 expression and ameliorates podocyte injury in diabetic mice. PLoS ONE. 2012; 7: e41391. doi:10. 1371/journal.pone.0041391 PMID: 22848482