Genetic risk factors for diabetic nephropathy on chromosomes 6p and 7q identified by the set-association approach

Diabetologia

Volumn 50, Issue 5, 2007, Pages 990-999

  Kankova K ^a   Stejskalova A ^a   Pacal L ^a   Tschoplova S ^a   Hertlova M ^b   Krusova D ^c   Izakovicova Holla L ^a   Beranek M ^a   Vasku A ^a   Barral, S ^d   Ott, J ^d  

^a MASARYK UNIVERSITY   (Czech Republic)

^b UNIVERSITY HOSPITAL BRNO   (Czech Republic)

^c ST ANNE S UNIVERSITY HOSPITAL   (Czech Republic)

^d ROCKEFELLER UNIVERSITY   (United States)

Author keywords

Diabetic nephropathy; Endothelin; Haplotype; LTA; Lymphotoxin ; Nitric oxide synthase; NOS3; RAGE; Receptor of advanced glycation end products; Set association

Indexed keywords

ADVANCED GLYCATION END PRODUCT; ENDOTHELIAL NITRIC OXIDE SYNTHASE; HEMOGLOBIN A1C;

ADULT; AGED; ARTICLE; CHROMOSOME 6P; CHROMOSOME 7Q; CHROMOSOME IDENTIFICATION; COMPARATIVE STUDY; COMPUTER MODEL; COMPUTER PROGRAM; CONTROLLED STUDY; DIABETIC NEPHROPATHY; FEMALE; GENE FREQUENCY; GENETIC ASSOCIATION; GENETIC RISK; GENETIC SUSCEPTIBILITY; GENOTYPE; HAPLOTYPE; HEMOGLOBIN DETERMINATION; HUMAN; LOGISTIC REGRESSION ANALYSIS; MAJOR CLINICAL STUDY; MALE; MULTILOCUS SEQUENCE TYPING; NON INSULIN DEPENDENT DIABETES MELLITUS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; RISK FACTOR; SINGLE NUCLEOTIDE POLYMORPHISM; STATISTICAL SIGNIFICANCE;

AGED; BAYES THEOREM; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 6; CHROMOSOMES, HUMAN, PAIR 7; CZECH REPUBLIC; DIABETIC NEPHROPATHIES; FEMALE; GENOTYPE; HUMANS; MALE; MIDDLE AGED; POLYMERASE CHAIN REACTION; POLYMORPHISM, GENETIC; REFERENCE VALUES; RISK FACTORS;

EID: 34147150203     PISSN: 0012186X     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00125-007-0606-3     Document Type: Article

References (50)

1. Wolf G (2004) New insights into the pathophysiology of diabetic nephropathy: from haemodynamics to molecular pathology. Eur J Clin Invest 34:785-796
2. Jacobsen PK (2005) Preventing end stage renal disease in diabetic patients-genetic aspect (part I). J Renin Angiotensin Aldosterone Syst 6:1-14
3. Boright AP, Paterson AD, Mirea L et al (2005) Genetic variation at the ACE gene is associated with persistent microalbuminuria and severe nephropathy in type 1 diabetes: the DCCT/EDIC Genetics Study. Diabetes 54:1238-1244
4. Krolewski AS, Warram JH, Christlieb AR, Busick EJ, Kahn CR (1985) The changing natural history of nephropathy in type I diabetes. Am J Med 78:785-794
5. The Diabetes Control and Complications Trial Research Group (1997) Clustering of long-term complications in families with diabetes in the diabetes control and complications trial. Diabetes 46:1829-1839
6. Borch-Johnsen K, Norgaard K, Hommel E et al (1992) Is diabetic nephropathy an inherited complication? Kidney Int 41:719-722
7. Canani LH, Gerchman F, Gross JL (1999) Familial clustering of diabetic nephropathy in Brazilian type 2 diabetic patients. Diabetes 48:909-913
8. Faronato PP, Maioli M, Tonolo G et al (1997) Clustering of albumin excretion rate abnormalities in Caucasian patients with NIDDM. The Italian NIDDM Nephropathy Study Group. Diabetologia 40:816-823
9. Quinn M, Angelico MC, Warram JH, Krolewski AS (1996) Familial factors determine the development of diabetic nephropathy in patients with IDDM. Diabetologia 39:940-945
10. Seaquist ER, Goetz FC, Rich S, Barbosa J (1989) Familial clustering of diabetic kidney disease. Evidence for genetic susceptibility to diabetic nephropathy. N Engl J Med 320:1161-1165
11. Freedman BI, Tuttle AB, Spray BJ (1995) Familial predisposition to nephropathy in African-Americans with non-insulin-dependent diabetes mellitus. Am J Kidney Dis 25:710-713
12. Pettitt DJ, Saad MF, Bennett PH, Nelson RG, Knowler WC (1990) Familial predisposition to renal disease in two generations of Pima Indians with type 2 (non-insulin-dependent) diabetes mellitus. Diabetologia 33:438-443
13. Harjutsalo V, Katoh S, Sarti C, Tajima N, Tuomilehto J (2004) Population-based assessment of familial clustering of diabetic nephropathy in type 1 diabetes. Diabetes 53:2449-2454
14. Fogarty DG, Hanna LS, Wantman M, Warram JH, Krolewski AS, Rich SS (2000) Segregation analysis of urinary albumin excretion in families with type 2 diabetes. Diabetes 49:1057-1063
15. Imperatore G, Knowler WC, Pettitt DJ, Kobes S, Bennett PH, Hanson RL (2000) Segregation analysis of diabetic nephropathy in Pima Indians. Diabetes 49:1049-1056
16. Imperatore G, Hanson RL, Pettitt DJ, Kobes S, Bennett PH, Knowler WC (1998) Sib-pair linkage analysis for susceptibility genes for microvascular complications among Pima Indians with type 2 diabetes. Pima Diabetes Genes Group. Diabetes 47:821-830
17. Imperatore G, Knowler WC, Nelson RG, Hanson RL (2001) Genetics of diabetic nephropathy in the Pima Indians. Curr Diab Rep 1:275-281
18. Moczulski DK, Rogus JJ, Antonellis A, Warram JH, Krolewski AS (1998) Major susceptibility locus for nephropathy in type 1 diabetes on chromosome 3q: results of novel discordant sib-pair analysis. Diabetes 47:1164-1169
19. Vardarli I, Baier LJ, Hanson RL et al (2002) Gene for susceptibility to diabetic nephropathy in type 2 diabetes maps to 18q22.3-23. Kidney Int 62:2176-2183
20. Liu Y, Freedman BI (2005) Genetics of progressive renal failure in diabetic kidney disease. Kidney Int Suppl Dec 99:S94-S97
21. Hoh J, Ott J (2003) Mathematical multi-locus approaches to localizing complex human trait genes. Nat Rev Genet 4:701-709
22. Heidema AG, Boer JM, Nagelkerke N, Mariman EC, van der A DL, Feskens EJ (2006) The challenge for genetic epidemiologists: how to analyze large numbers of SNPs in relation to complex diseases. BMC Genet 7:23
23. Hoh J, Wille A, Ott J (2001) Trimming, weighting, and grouping SNPs in human case-control association studies. Genome Res 11:2115-2119
24. Ding K, Zhou K, He F, Shen Y (2003) LDA-a java-based linkage disequilibrium analyzer. Bioinformatics 19:2147-2148
25. Abecasis GR, Cookson WO (2000) GOLD-graphical overview of linkage disequilibrium. Bioinformatics 16:182-183
26. Devlin B, Risch N (1995) A comparison of linkage disequilibrium measures for fine-scale mapping. Genomics 29:311-322
27. Benjamini Y, Hochberg Y (1995) Controlling the false discovery rate: a practical and powerful approach to multiple testing. J R Stat Soc [Ser B] 57:289-300
28. Stephens M, Smith NJ, Donnelly P (2001) A new statistical method for haplotype reconstruction from population data. Am J Hum Genet 68:978-989
29. Kankova K, Stejskalova A, Hertlova M, Znojil V (2005) Haplotype analysis of the RAGE gene: identification of a haplotype marker for diabetic nephropathy in type 2 diabetes mellitus. Nephrol Dial Transplant 20:1093-1102
30. Yamamoto Y, Doi T, Kato I et al (2005) Receptor for advanced glycation end products is a promising target of diabetic nephropathy. Ann N Y Acad Sci 1043:562-566
31. Ozaki K, Ohnishi Y, Iida A et al (2002) Functional SNPs in the lymphotoxin-alpha gene that are associated with susceptibility to myocardial infarction. Nat Genet 32:650-654
32. Messer G, Spengler U, Jung MC et al (1991) Polymorphic structure of the tumor necrosis factor (TNF) locus: an NcoI polymorphism in the first intron of the human TNF-beta gene correlates with a variant amino acid in position 26 and a reduced level of TNF-beta production. J Exp Med 173:209-219
33. Abraham LJ, French MA, Dawkins RL (1993) Polymorphic MHC ancestral haplotypes affect the activity of tumour necrosis factoralpha. Clin Exp Immunol 92:14-18
34. Knight JC, Keating BJ, Rockett KA, Kwiatkowski DP (2003) In vivo characterization of regulatory polymorphisms by allele-specific quantification of RNA polymerase loading. Nat Genet 33:469-475
35. Navarro JF, Mora C, Maca M, Garca J (2003) Inflammatory parameters are independently associated with urinary albumin in type 2 diabetes mellitus. Am J Kidney Dis 42:53-61
36. Moriwaki Y, Yamamoto T, Shibutani Y et al (2003) Elevated levels of interleukin-18 and tumor necrosis factor-alpha in serum of patients with type 2 diabetes mellitus: relationship with diabetic nephropathy. Metabolism 52:605-608
37. Kalantarinia K, Awad AS, Siragy HM (2003) Urinary and renal interstitial concentrations of TNF-alpha increase prior to the rise in albuminuria in diabetic rats. Kidney Int 64:1208-1213
38. Mukherjee TK, Mukhopadhyay S, Hoidal JR (2005) The role of reactive oxygen species in TNFalpha-dependent expression of the receptor for advanced glycation end products in human umbilical vein endothelial cells. Biochim Biophys Acta 1744:213-223
39. Prabhakar SS (2004) Role of nitric oxide in diabetic nephropathy. Semin Nephrol 24:333-344
40. Komers R, Anderson S (2003) Paradoxes of nitric oxide in the diabetic kidney. Am J Physiol Renal Physiol 284:F1121-F1137
41. Zanchi A, Moczulski DK, Hanna LS, Wantman M, Warram JH, Krolewski AS (2000) Risk of advanced diabetic nephropathy in type 1 diabetes is associated with endothelial nitric oxide synthase gene polymorphism. Kidney Int 57:405-413
42. Ksiazek P, Wojewoda P, Muc K, Buraczynska M (2003) Endothelial nitric oxide synthase gene intron 4 polymorphism in type 2 diabetes mellitus. Mol Diagn 7:119-123
43. Asakimori Y, Yorioka N, Taniguchi Y et al (2002) T(-786)→C polymorphism of the endothelial nitric oxide synthase gene influences the progression of renal disease. Nephron 91:747-751
44. Noiri E, Satoh H, Taguchi J et al (2002) Association of eNOS Glu298Asp polymorphism with end-stage renal disease. Hypertension 40:535-540
45. Rippin JD, Patel A, Belyaev ND, Gill GV, Barnett AH, Bain SC (2003) Nitric oxide synthase gene polymorphisms and diabetic nephropathy. Diabetologia 46:426-428
46. Kohan DE (1997) Endothelins in the normal and diseased kidney. Am J Kidney Dis 29:2-26
47. Bruzzi I, Remuzzi G, Benigni A (1997) Endothelin: a mediator of renal disease progression. J Nephrol 10:179-183
48. Jandeleit-Dahm K, Allen TJ, Youssef S, Gilbert RE, Cooper ME (2000) Is there a role for endothelin antagonists in diabetic renal disease? Diabetes Obes Metab 2:15-24
49. Freedman BI, Yu H, Anderson PJ, Roh BH, Rich SS, Bowden DW (2000) Genetic analysis of nitric oxide and endothelin in endstage renal disease. Nephrol Dial Transplant 15:1794-1800
50. Pinto-Sietsma SJ, Herrmann SM, Schmidt-Petersen K et al (2003) Role of the endothelin-1 gene locus for renal impairment in the general nondiabetic population. J Am Soc Nephrol 14:2596-2602