Variations in CCR5, but not HFE, ELMO1, or SLC12A3, are associated with susceptibility to kidney disease in north Indian individuals with type 2 diabetes

Journal of Diabetes

Volumn 6, Issue 6, 2014, Pages 547-555

  Yadav, Ashok K ^a   Kumar, Vinod ^a   Dutta, Pinaki ^a   Bhansali, Anil ^a   Jha, Vivekanand ^a,b  

^a POSTGRADUATE INSTITUTE OF MEDICAL EDUCATION AND RESEARCH   (India)

^b George Institute of Global Health   (India)

Author keywords

Diabetic nephropathy; ELMO1; Genetics; HFE; SLC12A3; Type 2 diabetes

Indexed keywords

CHEMOKINE RECEPTOR CCR5; ELMO1 PROTEIN; HFE PROTEIN; PROTEIN; SODIUM CHLORIDE COTRANSPORTER; UNCLASSIFIED DRUG; CCR5 PROTEIN, HUMAN; ELMO1 PROTEIN, HUMAN; HFE PROTEIN, HUMAN; HLA ANTIGEN CLASS 1; MEMBRANE PROTEIN; SIGNAL TRANSDUCING ADAPTOR PROTEIN; SLC12A3 PROTEIN, HUMAN;

ADULT; ALLELE; ARTICLE; CONTROLLED STUDY; DIABETIC NEPHROPATHY; DIABETIC NEUROPATHY; DIABETIC PATIENT; DIABETIC RETINOPATHY; DISEASE PREDISPOSITION; FEMALE; GENE FREQUENCY; GENETIC ASSOCIATION; GENOTYPE; HUMAN; HYPERTENSION; MAJOR CLINICAL STUDY; MALE; NON INSULIN DEPENDENT DIABETES MELLITUS; POLYMERASE CHAIN REACTION; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SINGLE NUCLEOTIDE POLYMORPHISM; AGED; CASE CONTROL STUDY; CAUCASIAN; COMPLICATION; GENETIC PREDISPOSITION; GENETICS; INDIA; MIDDLE AGED;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ADULT; AGED; ALLELES; CASE-CONTROL STUDIES; DIABETES MELLITUS, TYPE 2; DIABETIC NEPHROPATHIES; EUROPEAN CONTINENTAL ANCESTRY GROUP; FEMALE; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HISTOCOMPATIBILITY ANTIGENS CLASS I; HUMANS; INDIA; MALE; MEMBRANE PROTEINS; MIDDLE AGED; RECEPTORS, CCR5; SOLUTE CARRIER FAMILY 12, MEMBER 3;

EID: 84911992476     PISSN: 17530393     EISSN: 17530407     Source Type: Journal    
DOI: 10.1111/1753-0407.12128     Document Type: Article

References (50)

1. Adler AI, Stevens RJ, Manley SE etal. Development and progression of nephropathy in type 2 diabetes: The UnitedKingdom Prospective Diabetes Study (UKPDS 64). Kidney Int. 2003; 63: 225-232.
2. Modi GK, Jha V. The incidence of end-stage renal disease in India: A population-based study. Kidney Int. 2006; 70: 2131-2133.
3. Rajapurkar MM, John GT, Kirpalani AL etal. What do we know about chronic kidney disease in India: First report of the Indian CKD registry. BMC Nephrol. 2012; 13: 10.
4. Collins VR, Dowse GK, Plehwe WE etal. High prevalence of diabetic retinopathy and nephropathy in Polynesians of western Samoa. Diabetes Care. 1995; 18: 1140-1149.
5. Unnikrishnan RI, Rema M, Pradeepa R etal. Prevalence and risk factors of diabetic nephropathy in an urban south Indian population: The Chennai Urban Rural Epidemiology Study (CURES 45). Diabetes Care. 2007; 30: 2019-2024.
6. Freedman BI, Bowden DW, Sale MM, Langefeld CD, Rich SS. Genetic susceptibility contributes to renal and cardiovascular complications of type 2 diabetes mellitus. Hypertension. 2006; 48: 8-13.
7. Seaquist ER, Goetz FC, Rich S, Barbosa J. Familial clustering of diabetic kidney disease. Evidence for genetic susceptibility to diabetic nephropathy. N Engl J Med. 1989; 320: 1161-1165.
8. Moczulski DK, Rogus JJ, Antonellis A, Warram JH, Krolewski AS. Major susceptibility locus for nephropathy in type 1 diabetes on chromosome 3q: Results of novel discordant sib-pair analysis. Diabetes. 1998; 47: 1164-1169.
9. Pettitt DJ, Saad MF, Bennett PH, Nelson RG, Knowler WC. Familial predisposition to renal disease in two generations of Pima Indians with type 2 (non-insulin-dependent) diabetes mellitus. Diabetologia. 1990; 33: 438-443.
10. Shimazaki A, Kawamura Y, Kanazawa A etal. Genetic variations in the gene encoding ELMO1 are associated with susceptibility to diabetic nephropathy. Diabetes. 2005; 54: 1171-1178.
11. Kim JH, Shin HD, Park BL etal. SLC12A3 (solute carrier family 12 member [sodium/chloride] 3) polymorphisms are associated with end-stage renal disease in diabetic nephropathy. Diabetes. 2006; 55: 843-848.
12. Nishiyama K, Tanaka Y, Nakajima K etal. Polymorphism of the solute carrier family 12 (sodium/chloride transporters) member 3, SLC12A3, gene at exon 23 (+78G/A: Arg913Gln) is associated with elevation of urinary albumin excretion in Japanese patients with type 2 diabetes: A 10-year longitudinal study. Diabetologia. 2005; 48: 1335-1338.
13. Buraczynska M, Zukowski P, Wacinski P, Berger-Smyka B, Dragan M, Mozul S. Chemotactic cytokine receptor 5 gene polymorphism: Relevance to microvascular complications in type 2 diabetes. Cytokine. 2012; 58: 213-217.
14. Nakajima K, Tanaka Y, Nomiyama T etal. RANTES promoter genotype is associated with diabetic nephropathy in type 2 diabetic subjects. Diabetes Care. 2003; 26: 892-898.
15. Malecki MT, Klupa T, Walus M, Czogala W, Greenlaw P, Sieradzki J. A search for association between hereditary hemochromatosis HFE gene mutations and type 2 diabetes mellitus in a Polish population. Med Sci Monit. 2003; 9: BR91-95.
16. Moczulski DK, Grzeszczak W, Gawlik B. Role of hemochromatosis C282Y and H63D mutations in HFE gene in development of type 2 diabetes and diabetic nephropathy. Diabetes Care. 2001; 24: 1187-1191.
17. Ahluwalia TS, Khullar M, Ahuja M etal. Common variants of inflammatory cytokine genes are associated with risk of nephropathy in type 2 diabetes among Asian Indians. PLoS One. 2009; 4: e5168.
18. Prasad P, Tiwari AK, Kumar KM etal. Association of TGFbeta1, TNFalpha, CCR2 and CCR5 gene polymorphisms in type-2 diabetes and renal insufficiency among Asian Indians. BMC Med Genet. 2007; 8: 20.
19. World Health Organization. Definition, Diagnosis and Classification of Diabetes Mellitus and Its Complications. Report of A WHO Consultation. World Health Organization, Geneva, 1999.
20. Levey AS, Stevens LA, Schmid CH etal. A new equation to estimate glomerular filtration rate. Ann Intern Med. 2009; 150: 604-612.
21. Rincon-Choles H, Thameem F, Lehman DM etal. Genetic basis of diabetic nephropathy. Am J Ther. 2005; 12: 555-561.
22. Nakajima K, Tanaka Y, Nomiyama T etal. Chemokine receptor genotype is associated with diabetic nephropathy in Japanese with type 2 diabetes. Diabetes. 2002; 51: 238-242.
23. Mokubo A, Tanaka Y, Nakajima K etal. Chemotactic cytokine receptor 5 (CCR5) gene promoter polymorphism (59029A/G) is associated with diabetic nephropathy in Japanese patients with type 2 diabetes: A 10-year longitudinal study. Diabetes Res Clin Pract. 2006; 73: 89-94.
24. Borkar M, Tripathi G, Sharma RK, Sankhwar SN, Agrawal S. Chemokine (CCR) and fractalkine (CX3CR) receptors and end stage renal disease. Inflamm Res. 2011; 60: 399-407.
25. McDermott DH, Zimmerman PA, Guignard F, Kleeberger CA, Leitman SF, Murphy PM. CCR5 promoter polymorphism and HIV-1 disease progression. Multicenter AIDS Cohort Study (MACS). Lancet. 1998; 352: 866-870.
26. Tanaka N, Babazono T, Saito S etal. Association of solute carrier family 12 (sodium/chloride) member 3 with diabetic nephropathy, identified by genome-wide analyses of single nucleotide polymorphisms. Diabetes. 2003; 52: 2848-2853.
27. Hanson RL, Millis MP, Young NJ etal. ELMO1 variants and susceptibility to diabetic nephropathy in American Indians. Mol Genet Metab. 2010; 101: 383-390.
28. Herrero P, Flores L, de la Cera T, Moreno F. Functional characterization of transcriptional regulatory elements in the upstream region of the yeast GLK1 gene. Biochem J. 1999; 34: 319-325.
29. Feder JN, Gnirke A, Thomas W etal. A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis. Nat Genet. 1996; 13: 399-408.
30. Adams PC, Speechley M, Kertesz AE. Long-term survival analysis in hereditary hemochromatosis. Gastroenterology. 1991; 101: 368-372.
31. Niederau C, Fischer R, Purschel A, Stremmel W, Haussinger D, Strohmeyer G. Long-term survival in patients with hereditary hemochromatosis. Gastroenterology. 1996; 110: 1107-1119.
32. Niederau C, Fischer R, Sonnenberg A, Stremmel W, Trampisch HJ, Strohmeyer G. Survival and causes of death in cirrhotic and in noncirrhotic patients with primary hemochromatosis. N Engl J Med. 1985; 313: 1256-1262.
33. Nelson RL, Davis FG, Persky V, Becker E. Risk of neoplastic and other diseases among people with heterozygosity for hereditary hemochromatosis. Cancer. 1995; 76: 875-879.
34. Kwan T, Leber B, Ahuja S, Carter R, Gerstein HC. Patients with type 2 diabetes have a high frequency of the C282Y mutation of the hemochromatosis gene. Clin Invest Med. 1998; 21: 251-257.
35. Fernandez-Real JM, Vendrell J, Baiget M, Gimferrer E, Ricart W. C282Y and H63D mutations of the hemochromatosis candidate gene in type 2 diabetes. Diabetes Care. 1999; 22: 525-526.
36. Braun J, Donner H, Plock K, Rau H, Usadel KH, Badenhoop K. Hereditary haemochromatosis mutations (HFE) in patients with Type II diabetes mellitus. Diabetologia. 1998; 41: 983-984.
37. Dubois-Laforgue D, Caillat-Zucman S, Djilali-Saiah I etal. Mutations in HFE, the hemochromatosis candidate gene, in patients with NIDDM. Diabetes Care. 1998; 21: 1371-1372.
38. Florkowski CM, George PM, Willis JA etal. Haemochromatosis gene mutations Cys282Tyr and His63Asp are not increased in Type 2 diabetic patients compared with the Canterbury (New Zealand) general population. Diabetes Res Clin Pract. 1999; 43: 199-203.
39. Frayling T, Ellard S, Grove J, Walker M, Hattersley AT. C282Y mutation in HFE (haemochromatosis) gene and type 2 diabetes. Lancet. 1998; 351: 1933-1934.
40. Ahluwalia TS, Ahuja M, Rai TS etal. ACE variants interact with the RAS pathway to confer risk and protection against type 2 diabetic nephropathy. DNA Cell Biol. 2009; 28: 141-150.
41. Naresh VV, Reddy AL, Sivaramakrishna G, Sharma PV, Vardhan RV, Kumar VS. Angiotensin converting enzyme gene polymorphism in type II diabetics with nephropathy. Indian. J Nephrol. 2009; 19: 145-148.
42. Viswanathan V, Zhu Y, Bala K etal. Association between ACE gene polymorphism and diabetic nephropathy in South Indian patients. J. Pancreas. 2001; 2: 83-87.
43. Prasad P, Tiwari AK, Kumar KM etal. Chronic renal insufficiency among Asian Indians with type 2 diabetes: I. Role of RAAS gene polymorphisms. BMC Med Genet. 2006; 7: 42.
44. Ahluwalia TS, Ahuja M, Rai TS etal. Endothelial nitric oxide synthase gene haplotypes and diabetic nephropathy among Asian Indians. Mol Cell Biochem. 2008; 314: 9-17.
45. Tiwari AK, Prasad P, Thelma BK etal. Oxidative stress pathway genes and chronic renal insufficiency in Asian Indians with Type 2 diabetes. J Diabetes Complications. 2009; 23: 102-111.
46. Prasad P, Kumar KM, Ammini AC, Gupta A, Gupta R, Thelma BK. Association of dopaminergic pathway gene polymorphisms with chronic renal insufficiency among Asian Indians with type-2 diabetes. BMC Genet. 2008; 9: 26.
47. Movva S, Alluri RV, Venkatasubramanian S etal. Association of methylene tetrahydrofolate reductase C677T genotype with type 2 diabetes mellitus patients with and without renal complications. Genet Test Mol Biomarkers. 2011; 15: 257-261.
48. Prasad P, Tiwari AK, Kumar KM etal. Association analysis of ADPRT1, AKR1B1, RAGE, GFPT2 and PAI-1 gene polymorphisms with chronic renal insufficiency among Asian Indians with type-2 diabetes. BMC Med Genet. 2010; 11: 52.
49. Shah VN, Cheema BS, Sharma R etal. ACACbeta gene (rs2268388) and AGTR1 gene (rs5186) polymorphism and the risk of nephropathy in Asian Indian patients with type 2 diabetes. Mol Cell Biochem. 2013; 372: 191-198.
50. Cheema BS, Iyengar S, Ahluwalia TS etal. Association of an osteopontin gene promoter polymorphism with susceptibility to diabetic nephropathy in Asian Indians. Clin Chim Acta. 2012; 413: 1600-1604.