Mining the Genome for Susceptibility to Diabetic Nephropathy: The Role of Large-Scale Studies and Consortia

Seminars in Nephrology

Volumn 27, Issue 2, 2007, Pages 208-222

  Iyengar, Sudha K ^a   Freedman, Barry I ^b   Sedor, John R ^c  

^a CASE WESTERN RESERVE UNIVERSITY   (United States)

^b WAKE FOREST SCHOOL OF MEDICINE   (United States)

^c CASE WESTERN RESERVE UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

albuminuria; association; candidate genes; Genetics; linkage

Indexed keywords

ALBUMINURIA; ARTICLE; CARNOSINE DIPEPTIDASE 1 GENE; CELL MOTILITY; CHROMOSOME; CHROMOSOME 18Q; CHROMOSOME 7P; CHRONIC KIDNEY DISEASE; CHRONIC KIDNEY FAILURE; DIABETIC NEPHROPATHY; DISEASE ACTIVITY; DISEASE COURSE; ENGULFMENT AND CELL MOTILITY 1 GENE; GENE; GENE LOCUS; GENE MAPPING; GENE REPLICATION; GENETIC LINKAGE; GENETIC SUSCEPTIBILITY; GENOME; GENOTYPE; GLOMERULUS FILTRATION RATE; HUMAN; INFORMATION SCIENCE; LINKAGE ANALYSIS; PATIENT CODING; PRIORITY JOURNAL; PROTEINURIA; RISK FACTOR; SAMPLE SIZE; STATISTICAL ANALYSIS; SYMPTOM;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; DIABETIC NEPHROPATHIES; DIPEPTIDASES; GENETIC PREDISPOSITION TO DISEASE; GENOME, HUMAN; HUMANS; LIGANDS; LINKAGE (GENETICS); PROGNOSIS;

EID: 34047247179     PISSN: 02709295     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.semnephrol.2007.01.004     Document Type: Article

References (77)

1. Seaquist E.R., Goetz F.C., and Povey S. Diabetic nephropathy: an hypothesis regarding genetic susceptibility for the disorder. Minn Med 69 (1986) 457-459
2. Scalvini T., Spandrio S., di-Stefano O., et al. Severe microvascular disease in type II diabetes of early onset. A family study. Acta Diabetol Lat 26 (1989) 58-74
3. Seaquist E.R., Goetz F.C., Rich S., et al. Familial clustering of diabetic kidney disease. Evidence for genetic susceptibility to diabetic nephropathy. N Engl J Med 320 (1989) 1161-1165
4. Pettitt D.J., Saad M.F., Bennett P.H., et al. Familial predisposition to renal disease in two generations of Pima Indians with type 2 (non-insulin-dependent) diabetes mellitus. Diabetologia 33 (1990) 438-443
5. Kalter L.O., Van-Dyk D.J., Leibovici L., et al. Risk factors for development of diabetic nephropathy and retinopathy in Jewish IDDM patients. Diabetes 40 (1991) 204-210
6. Freedman B.I., Spray B.J., Tuttle A.B., et al. The familial risk of end-stage renal disease in African Americans. Am J Kidney Dis 21 (1993) 387-393
7. Krolewski A.S., Doria A., Magre J., et al. Molecular genetic approaches to the identification of genes involved in the development of nephropathy in insulin-dependent diabetes mellitus. J Am Soc Nephrol 3 (1992) S9-S17
8. Quinn M., Angelico M.C., Warram J.H., et al. Familial factors determine the development of diabetic nephropathy in patients with IDDM. Diabetologia 39 (1996) 940-945
9. Imperatore G., Hanson R.L., Pettitt D.J., et al., Pima Diabetes Genes Group. Sib-pair linkage analysis for susceptibility genes for microvascular complications among Pima Indians with type 2 diabetes. Diabetes 47 (1998) 821-830
10. Moczulski D.K., Rogus J.J., Antonellis A., et al. Major susceptibility locus for nephropathy in type 1 diabetes on chromosome 3q: results of novel discordant sib-pair analysis. Diabetes 47 (1998) 1164-1169
11. Yu H., Bowden D.W., Spray B.J., et al. Identification of human plasma kallikrein gene polymorphisms and evaluation of their role in end-stage renal disease. Hypertension 31 (1998) 906-911
12. Rogus J.J., and Krolewski A.S. Using discordant sib pairs to map loci for qualitative traits with high sibling recurrence risk. Am J Hum Genet 59 (1996) 1376-1381
13. Hoogwerf B.J., and Brouhard B.H. Glycemic control and complications of diabetes mellitus: practical implications of the Diabetes Control and Complications Trial (DCCT). Cleve Clin J Med 61 (1994) 34-37
14. Jones S.L., and Viberti G.C. Hypertension and microalbuminuria as predictors of diabetic nephropathy. Diabetes Metab 15 (1989) 327-332
15. Levey A.S., Coresh J., Greene T., et al. Using standardized serum creatinine values in the modification of diet in renal disease study equation for estimating glomerular filtration rate. Ann Intern Med 145 (2006) 247-254
16. Stevens L.A., Coresh J., Greene T., et al. Assessing kidney function-measured and estimated glomerular filtration rate. N Engl J Med 354 (2006) 2473-2483
17. Peterson J.C., Adler S., Burkart J.M., et al. Blood pressure control, proteinuria, and the progression of renal disease. The Modification of Diet in Renal Disease Study. Ann Intern Med 123 (1995) 754-762
18. de Jong P.E., and Curhan G.C. Screening, monitoring, and treatment of albuminuria: public health perspectives. J Am Soc Nephrol 17 (2006) 2120-2126
19. Borch-Johnsen K., Feldt-Rasmussen B., Strandgaard S., et al. Urinary albumin excretion. An independent predictor of ischemic heart disease. Arterioscler Thromb Vasc Biol 19 (1999) 1992-1997
20. Fogarty D.G., Hanna L.S., Wantman M., et al. Segregation analysis of urinary albumin excretion in families with type 2 diabetes. Diabetes 49 (2000) 1057-1063
21. Langefeld C.D., Beck S.R., Bowden D.W., et al. Heritability of GFR and albuminuria in Caucasians with type 2 diabetes mellitus. Am J Kidney Dis 43 (2004) 796-800
22. Imperatore G., Knowler W.C., Pettitt D.J., et al. Segregation analysis of diabetic nephropathy in Pima Indians. Diabetes 49 (2000) 1049-1056
23. Fogarty D.G., Rich S.S., Hanna L., et al. Urinary albumin excretion in families with type 2 diabetes is heritable and genetically correlated to blood pressure. Kidney Int 57 (2000) 250-257
24. Forsblom C.M., Kanninen T., Lehtovirta M., et al. Heritability of albumin excretion rate in families of patients with type II diabetes. Diabetologia 42 (1999) 1359-1366
25. Fioretto P., Steffes M.W., Barbosa J., et al. Is diabetic nephropathy inherited?. Studies of glomerular structure in type 1 diabetic sibling pairs. Diabetes 48 (1999) 865-869
26. The Diabetes Control and Complications Trial Research Group. Clustering of long-term complications in families with diabetes in the diabetes control and complications trial. The Diabetes Control and Complications Trial Research Group. Diabetes 46 (1997) 1829-1839
27. Biesenbach G., Janko O., and Zazgornik J. Similar rate of progression in the predialysis phase in type I and type II diabetes mellitus. Nephrol Dial Transplant 9 (1994) 1097-1102
28. Svensson M., Nystrom L., Schon S., et al. Age at onset of childhood-onset type 1 diabetes and the development of end-stage renal disease: a nationwide population-based study. Diabetes Care 29 (2006) 538-542
29. Kussman M.J., Goldstein H., and Gleason R.E. The clinical course of diabetic nephropathy. JAMA 236 (1976) 1861-1863
30. Lander E., and Kruglyak L. Genetic dissection of complex traits: guidelines for interpreting and reporting linkage results. Nat Genet 11 (1995) 241-247
31. Burton P.R., Palmer L.J., Jacobs K., et al. Ascertainment adjustment: where does it take us?. Am J Hum Genet 67 (2000) 1505-1514
32. Dawson D.V., and Elston R.C. A bivariate problem in human genetics: ascertainment of families through a correlated trait. Am J Med Genet 18 (1984) 435-448
33. Elston R.C., and Sobel E. Sampling considerations in the gathering and analysis of pedigree data. Am J Hum Genet 31 (1979) 62-69
34. Ginsburg E., Malkin I., and Elston R.C. Sampling correction in pedigree analysis. Stat Appl Genet Mol Biol 2 (2003) Article 2
35. Ginsburg E., Malkin I., and Elston R.C. Sampling correction in linkage analysis. Genet Epidemiol 27 (2004) 87-96
36. Knowler W.C., Coresh J., Elston R.C., et al. The Family Investigation of Nephropathy and Diabetes (FIND): design and methods. J Diabetes Complications 19 (2005) 1-9
37. Mueller P.W., Rogus J.J., Cleary P.A., et al. Genetics of Kidneys in Diabetes (GoKinD) study: a genetics collection available for identifying genetic susceptibility factors for diabetic nephropathy in type 1 diabetes. J Am Soc Nephrol 17 (2006) 1782-1790
38. Bowden D.W., Colicigno C.J., Langefeld C.D., et al. A genome scan for diabetic nephropathy in African Americans. Kidney Int 66 (2004) 1517-1526
39. Shimazaki A., Kawamura Y., Kanazawa A., et al. Genetic variations in the gene encoding ELMO1 are associated with susceptibility to diabetic nephropathy. Diabetes 54 (2005) 1171-1178
40. Janssen B., Hohenadel D., Brinkkoetter P., et al. Carnosine as a protective factor in diabetic nephropathy: association with a leucine repeat of the carnosinase gene CNDP1. Diabetes 54 (2005) 2320-2327
41. Yu H., Bowden D.W., Spray B.J., et al. Linkage analysis between loci in the renin-angiotensin axis and end-stage renal disease in African Americans. J Am Soc Nephrol 7 (1996) 2559-2564
42. Freedman B.I., Yu H., Spray B.J., et al. Genetic linkage analysis of growth factor loci and end-stage renal disease in African Americans. Kidney Int 51 (1997) 819-825
43. Freedman B.I., Rich S.S., Yu H., et al. Linkage heterogeneity of end-stage renal disease on human chromosome 10. Kidney Int 62 (2002) 770-774
44. Yu H., Sale M., Rich S.S., et al. Evaluation of markers on human chromosome 10, including the homologue of the rodent Rf-1 gene, for linkage to ESRD in black patients. Am J Kidney Dis 33 (1999) 294-300
45. Vardarli I., Baier L.J., Hanson R.L., et al. Gene for susceptibility to diabetic nephropathy in type 2 diabetes maps to 18q22.3-23. Kidney Int 62 (2002) 2176-2183
46. Freedman B.I., Beck S.R., Rich S.S., et al. A genome-wide scan for urinary albumin excretion in hypertensive families. Hypertension 42 (2003) 291-296
47. Iyengar S.K., Fox K.A., Schachere M., et al. Linkage analysis of candidate loci for end-stage renal disease due to diabetic nephropathy. J Am Soc Nephrol 14 (2003) S195-S201
48. Freedman B.I., Bowden D.W., Rich S.S., et al. A genome scan for all-cause end-stage renal disease in African Americans. Nephrol Dial Transplant 10 (2005) 2719-2727
49. Krolewski A.S., Poznik G.D., Placha G., et al. A genome-wide linkage scan for genes controlling variation in urinary albumin excretion in type II diabetes. Kidney Int 69 (2006) 129-136
50. Osterholm A.M., He B., Pitkaniemi J., et al. Genome-wide scan for type 1 diabetic nephropathy in the Finnish population reveals suggestive linkage to a single locus on chromosome 3q. Kidney Int 71 (2006) 140-145
51. Iyengar SK, Abboud HE, Goddard KAB, et al, and on behalf of the Family Investigation of Nephropathy and Diabetes. Genome-wide scans for diabetic nephropathy and albuminuria in multi-ethnic populations. the Family Investigation of Nephropathy and Diabetes. Diabetes. In press.
52. McKnight A.J., Maxwell A.P., Sawcer S., et al. A genome-wide DNA microsatellite association screen to identify chromosomal regions harboring candidate genes in diabetic nephropathy. J Am Soc Nephrol 17 (2006) 831-836
53. An P., Freedman B.I., Hanis C.L., et al. Genome-wide linkage scans for fasting glucose, insulin, and insulin resistance in the national heart, lung, and blood institute family blood pressure program: evidence of linkages to chromosome 7q36 and 19q13 from meta-analysis. Diabetes 54 (2005) 909-914
54. Altshuler D., Hirschhorn J.N., Klannemark M., et al. The common PPARgamma Pro12Ala polymorphism is associated with decreased risk of type 2 diabetes. Nat Genet 26 (2000) 76-80
55. Grant S.F., Thorleifsson G., Reynisdottir I., et al. Variant of transcription factor 7-like 2 (TCF7L2) gene confers risk of type 2 diabetes. Nat Genet 38 (2006) 320-323
56. Tsuchiya T., Schwarz P.E., Bosque-Plata L.D., et al. Association of the calpain-10 gene with type 2 diabetes in Europeans: results of pooled and meta-analyses. Mol Genet Metab 89 (2006) 174-184
57. Zschocke J., Nebel A., Wicks K., et al. Allelic variation in the CNDP1 gene and its lack of association with longevity and coronary heart disease. Mech Ageing Dev 127 (2006) 817-820
58. Ewens K.G., George R.A., Sharma K., et al. Assessment of 115 candidate genes for diabetic nephropathy by transmission/disequilibrium test. Diabetes 54 (2005) 3305-3318
59. Spielman R.S., McGinnis R.E., and Ewens W.J. Transmission test for linkage disequilibrium: the insulin gene region and insulin-dependent diabetes mellitus (IDDM). Am J Hum Genet 52 (1993) 506-516
60. Spielman R.S., and Ewens W.J. A sibship test for linkage in the presence of association: the sib transmission/disequilibrium test. Am J Hum Genet 62 (1998) 450-458
61. Freimer N.B., and Sabatti C. Guidelines for association studies in human molecular genetics. Hum Mol Genet 14 (2005) 2481-2483
62. Ehm M.G., Nelson M.R., and Spurr N.K. Guidelines for conducting and reporting whole genome/large-scale association studies. Hum Mol Genet 14 (2005) 2485-2488
63. The International HapMap Consortium. The International HapMap Project. Nature 426 (2003) 789-796
64. The International HapMap Consortium. Integrating ethics and science in the International HapMap Project. Nat Rev Genet 5 (2004) 467-475
65. Hinds D.A., Seymour A.B., Durham L.K., et al. Application of pooled genotyping to scan candidate regions for association with HDL cholesterol levels. Hum Genomics 1 (2004) 421-434
66. Barrett J.C., and Cardon L.R. Evaluating coverage of genome-wide association studies. Nat Genet 38 (2006) 659-662
67. Koopman R.J., Mainous III A.G., Liszka H.A., et al. Evidence of nephropathy and peripheral neuropathy in US adults with undiagnosed diabetes. Ann Fam Med 4 (2006) 427-432
68. Ong A.C., and Harris P.C. Molecular pathogenesis of ADPKD: the polycystin complex gets complex. Kidney Int 67 (2005) 1234-1247
69. Epidemiology of Diabetes Interventions and Complications (EDIC). Design, implementation, and preliminary results of a long-term follow-up of the Diabetes Control and Complications Trial cohort. Diabetes Care 22 (1999) 99-111
70. Lloyd C.E., Stephenson J., Fuller J.H., et al. A comparison of renal disease across two continents; the epidemiology of diabetes complications study and the EURODIAB IDDM Complications Study. Diabetes Care 19 (1996) 219-225
71. Roglic G., Colhoun H.M., Stevens L.K., et al. Parental history of hypertension and parental history of diabetes and microvascular complications in insulin-dependent diabetes mellitus: the EURODIAB IDDM Complications Study. Diabet Med 15 (1998) 418-426
72. Pettersson-Fernholm K., Forsblom C., Perola M., et al. Polymorphisms in the nephrin gene and diabetic nephropathy in type 1 diabetic patients. Kidney Int 63 (2003) 1205-1210
73. Boger C.A., Haak T., Gotz A.K., et al. Effect of ACE and AT-2 inhibitors on mortality and progression to microalbuminuria in a nested case-control study of diabetic nephropathy in diabetes mellitus type 2: results from the GENDIAN study. Int J Clin Pharmacol Ther 44 (2006) 364-374
74. Cordovado S.K., Hancock L.N., Simone A.E., et al. High-resolution genotyping of HLA-DQA1 in the GoKinD study and identification of novel alleles HLA-DQA1*040102, HLA-DQA1*0402 and HLA-DQA1*0404. Tissue Antigens 65 (2005) 448-458
75. Hancock L.N., Cordovado S.K., Hendrix M., et al. Identification of two novel DQA1 alleles, DQA1*0107 and DQA1*0602, by sequence-based typing in the GoKinD population. Hum Immunol 66 (2005) 1248-1253
76. van der Sman-de Beer, Verhagen C., Rombach S.M., et al. ACE I/D polymorphism is associated with mortality in a cohort study of patients starting with dialysis. Kidney Int 68 (2005) 2237-2243
77. Jager K.J., Merkus M.P., Boeschoten E.W., et al., NECOSAD Study Group. Dialysis in The Netherlands: the clinical condition of new patients put into a European perspective. Netherlands Cooperative Study on the Adequacy of Dialysis phase 1. Nephrol Dial Transplant 14 (1999) 2438-2444