Identifying genes for diabetic nephropathy - Current difficulties and future directions

Nephrology Dialysis Transplantation

Volumn 21, Issue 11, 2006, Pages 3012-3017

  Conway, Bryan R ^a,b   Savage, David A ^a   Maxwell, A Peter ^a  

^a QUEEN'S UNIVERSITY BELFAST   (United Kingdom)

^b BELFAST CITY HOSPITAL   (United Kingdom)

Author keywords

Candidate gene analysis; Diabetic nephropathy; Genetic susceptibility; Genome wide screens; Single nucleotide polymorphism

Indexed keywords

ADENINE; ALBUMIN; ALDEHYDE REDUCTASE; ANGIOTENSIN 1 RECEPTOR; CALDESMON; COTRANSPORTER; CYTOSINE; DIPEPTIDYL CARBOXYPEPTIDASE; DIPEPTIDYL CARBOXYPEPTIDASE INHIBITOR; GENE PRODUCT; GUANINE; PROTEIN ELMO 1; TYROSINE; UNCLASSIFIED DRUG;

CARDIOVASCULAR DISEASE; DIABETIC NEPHROPATHY; DISEASE ASSOCIATION; DISEASE COURSE; DISEASE DURATION; DISEASE SEVERITY; ETHNIC DIFFERENCE; FALSE NEGATIVE RESULT; FALSE POSITIVE RESULT; FAMILY HISTORY; FAMILY STUDY; GENE DELETION; GENE EXPRESSION PROFILING; GENE IDENTIFICATION; GENE INSERTION; GENE LINKAGE DISEQUILIBRIUM; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC POLYMORPHISM; GENETIC PREDISPOSITION; GENETIC SCREENING; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; GENOTYPE; HEREDITY; HUMAN; HYPERTENSION; INSULIN DEPENDENT DIABETES MELLITUS; LINKAGE ANALYSIS; MICROALBUMINURIA; NON INSULIN DEPENDENT DIABETES MELLITUS; NOTE; PATHOGENESIS; PENETRANCE; PHARMACOGENETICS; PHENOTYPE; PRIORITY JOURNAL; PROTEINURIA; RISK ASSESSMENT; SINGLE NUCLEOTIDE POLYMORPHISM; TREATMENT OUTCOME;

ANIMALS; DIABETIC NEPHROPATHIES; GENETIC PREDISPOSITION TO DISEASE; GENETIC SCREENING; GENETIC TESTING; HUMANS; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 33749990615     PISSN: 09310509     EISSN: 14602385     Source Type: Journal    
DOI: 10.1093/ndt/gfl452     Document Type: Note

References (38)

1. U.S. Renal Data System, USRDS 2005 Annual Data Report. Atlas of End-Stage Renal Disease in the United States, National Institutes of Health, National Institute of Diabetes and Digestive and Kidney Diseases, Bethseda, MD, 2005
2. Marshall S. Recent advances in diabetic nephropathy. Clin Med 2004; 4: 277-282
3. Krolewski M, Eggers PW, Warram JH. Magnitude of end-stage renal disease in IDDM: A 35 year follow-up study. Kidney Int 1996; 50: 2041-2046
4. Seaquist ER, Goetz FC, Rish S, Barbosa J. Familial clustering of diabetic kidney disease. Evidence for genetic susceptibility to diabetic nephropathy. N Engl J Med 1989; 320: 1161-1165
5. Quinn M, Angelico MC, Warram JH, Krolewski AS. Familial factors determine the development of nephropathy in patients with IDDM. Diabetologia 1996; 39: 940-945
6. 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
7. Fogarty DG, Rich SS, Hanna L, Warram JH, Krolewski AS. Urinary albumin excretion in families with type 2 diabetes is heritable and genetically correlated to blood pressure. Kidney Int 2000; 57: 250-257
8. Fioretto P, Steffes MW, Barbosa J, Rich SS, Miller ME, Mauer M. Is diabetic nephropathy inherited? Studies of glomerular structure in type 1 diabetic sibling pairs. Diabetes 1999; 48: 865-869
9. Roglic G, Colhoun HM, Stevens LK, Lemkes HH, Manes C, Fuller JH. Parental history of hypertension and parental history of diabetes and microvascular complications in insulin-dependent diabetes mellitus: The EURODIAB complications study. Diabet Med 1998; 15: 418-426
10. De Cosmo S, Bacci S, Piras GP et al. High prevalence of risk factors for cardiovascular disease in parents of IDDM patients with microalbuminuria. Diabetologia 1997; 40: 1191-1196
11. Krolewski AS, Warram JH, Rand LI, Christlieb AR, Busick EJ, Kahn CR. Risk of proliferative diabetic retinopathy in juvenile-onset type 1 diabetes: A 40-yr follow-up study. Diabetes Care 1986; 9: 443-452
12. Jacobsen P, Tarnow L, Carstensen B, Hovind P, Poirier O, Parving H-H. Genetic variation in the renin-angiotensin system and progression of diabetic nephropathy. J Am Soc Nephrol 2003; 14: 2843-2850
13. Ng DP, Tai BC, Koh D, Tan KW, Chia KS. Angiotensin-I converting enzyme insertion/deletion polymorphism and its association with diabetic nephropathy: A meta-analysis of studies reported between 1994 and 2004 and comprising 14,727 subjects. Diabetologia 2005; 48: 1008-1016
14. Conway BR, Maxwell AP, Savage DA et al. Association between variation in the actin-binding gene caldesmon and diabetic nephropathy in type 1 diabetes. Diabetes 2004; 53: 1162-1165
15. Conway BR, Martin R, McKnight AJ, Savage DA, Brady HR, Maxwell AP. Role of alpha-adducin DNA polymorphisms in the genetic predisposition to diabetic nephropathy. Nephrol Dial Transplant 2004; 19: 2019-24
16. Perkins BA, Ficociello LH, Silva KH, Finkelstein DM, Warram JH, Krolewski AS. Regression of microalbuminuria in type 1 diabetes. N Engl J Med 2003; 348: 2285-2293
17. Risch N. Searching for genetic determinants in the new millennium. Nature 2000; 405: 847-856
18. Pritchard JK, Stephens M, Rosenberg NA, Donnelly P. Association mapping in structured populations. Am J Hum Genet 2000; 67: 170-181
19. Spielman RS, McGinnis RE, Ewens WJ. Transmission test for linkage disequilibrium: The insulin gene region and insulin-dependent diabetes mellitus (IDDM). Am J Hum Genet 1993; 52: 506-516
20. Risch N, Merikangas K. The future of genetic studies of complex human diseases. Science 1996; 273: 1516-1517
21. Nistico L, Buzzetti R, Pritchard LE et al. The CTLA-4 gene region of chromosome 2q33 is linked to, and associated with, type 1 diabetes. Hum Mol Genet 1996; 5: 1075-1080
22. Hugot JP, Chamaillard M, Zouali H et al. Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn's disease. Nature 2001; 411: 599-603
23. Imperatore G, Hanson RL, Pettitt DJ, Kobes S, Bennett PH, Knowler WC. Sib-pair linkage analysis for susceptibility genes for microvascular complications among Pima Indians with type 2 diabetes. Pima Diabetes Genes Group. Diabetes 1998; 47: 821-830
24. Fogarty DG, Moczulski DK, Makita Y, Warram JH, Krolewski AS. Evidence for a susceptibility locus for diabetic nephropathy on chromosome 7q in Caucasian families with type 2 diabetes. Diabetes 1999; 48: A47
25. http://www.diabetes.org.uk/infocentre/inform/warren3.htm
26. Thorn LM, Forsblom C, Fagerudd J et al. Metabolic syndrome in type 1 diabetes: Association with diabetic nephropathy and glycemic control (the FinnDiane study). Diabetes Care 2005; 28: 2019-2024
27. http://www.gokind.org/access/home.htm
28. http://www.niddk.nih.gov/patient/find/find.htm
29. Johnson GC, Esposito L, Barratt B et al. Haplotype tagging for the identification of common disease genes. Nat Genet 2001; 29: 233-237
30. Murphy M, Godson C, Cannon S et al. Suppression subtractive hybridization identifies high glucose levels as a stimulus for expression of connective tissue growth factor and other genes in human mesangial cells. J Biol Chem 1999; 274: 5830-5834
31. Colhoun HM. on behalf of the EURODIAB Family Study Investigators. Candidate gene variant associations with diabetic microvascular disease in the EURODIAB Family Study. Diabetologia 2005; 48 [Suppl 1]: A36
32. The International HapMap Consortium.A haplotype map of the human genome. Nature 2005; 437: 1299-1320
33. Wang WY, Barratt BJ, Clayton DG, Todd JA. Genome-wide association studies: Theoretical and practical concerns. Nat Rev Genet 2005; 6: 109-118
34. Hirschhorn JN, Daly MJ. Genome-wide association studies for common diseases and complex traits. Nat Rev Genet 2005; 6: 95-108
35. Lowe CE, Cooper JD, Chapman JM et al. Cost-effective analysis of candidate genes using htSNPs: A staged approach. Genes Immun 2004; 5: 301-305
36. Skol AD, Scott LJ, Abecasis GR, Boehnke M. Joint analysis is more efficient than replication-based analysis for two-stage genome-wide association studies. Nat Genet 2006; 38: 209-213
37. Tanaka N, Babazono T, Saito S et al. 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
38. Shimazaki A, Kawamura A, Kanazawa A et al. Genetic variations in the gene encoding ELMO1 are associated with susceptibility to diabetic nephropathy. Diabetes 2005; 54: 1171-1178