The influence of carnosinase gene polymorphisms on diabetic nephropathy risk in African-Americans

Human Genetics

Volumn 126, Issue 2, 2009, Pages 265-275

  McDonough, Caitrin W ^a   Hicks, Pamela J ^a   Lu, Lingyi ^a   Langefeld, Carl D ^a   Freedman, Barry I ^a   Bowden, Donald W ^a  

^a WAKE FOREST SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CARNOSINASE DIPEPTIDASE 1; CARNOSINASE DIPEPTIDASE 2; DIPEPTIDASE; GENOMIC DNA; UNCLASSIFIED DRUG;

3' UNTRANSLATED REGION; ADULT; AFRICAN AMERICAN; ARTICLE; CONTROLLED STUDY; DIABETIC NEPHROPATHY; DNA DETERMINATION; EUROPEAN AMERICAN; EXON; FEMALE; GENE FUNCTION; GENETIC ASSOCIATION; GENETIC POLYMORPHISM; GENETIC RISK; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; GENOTYPE; HAPLOTYPE; HUMAN; KIDNEY FAILURE; MAJOR CLINICAL STUDY; MALE; NON INSULIN DEPENDENT DIABETES MELLITUS; PRIORITY JOURNAL; PROMOTER REGION; RACE DIFFERENCE; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM;

ADULT; AFRICAN AMERICANS; AGED; DIABETES MELLITUS, TYPE 2; DIABETIC NEPHROPATHIES; DIPEPTIDASES; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENOME; HAPLOTYPES; HUMANS; KIDNEY FAILURE, CHRONIC; MALE; MIDDLE AGED; POLYMORPHISM, GENETIC;

EID: 68949215691     PISSN: 03406717     EISSN: 14321203     Source Type: Journal    
DOI: 10.1007/s00439-009-0667-0     Document Type: Article

References (23)

1. Barrett JC, Fry B, Maller J, Daly MJ (2005) Haploview: Analysis and visualization of LD and haplotype maps. Bioinformatics 21:263-265
2. Boldyrev AA (2000) Problems and perspectives in studying the biological role of carnosine. Biochemistry (Mosc) 65:751-756
3. Bowden DW, Colicigno CJ, Langefeld CD, Sale MM, Williams A, Anderson PJ, Rich SS, Freedman BI (2004) A genome scan for diabetic nephropathy in African Americans. Kidney Int 66:1517-1526
4. Buetow KH, Edmonson M, MacDonald R, Clifford R, Yip P, Kelley J, Little DP, Strausberg R, Koester H, Cantor CR, Braun A (2001) High-throughput development and characterization of a genome wide collection of gene-based single nucleotide polymorphism markers by chip-based matrix-assisted laser desorption/ionization time-of-flight mass spectrometry. Proc Natl Acad Sci USA 98:581-584
5. 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
6. Freedman BI, Hicks PJ, Sale MM, Pierson ED, Langefeld CD, Rich SS, Xu J, McDonough C, Janssen B, Yard B, van der Woude FJ, Bowden DW (2007) A leucine repeat in the carnosinase gene CNDP1 is associated with diabetic end-stage renal disease in European Americans. Nephrol Dial Transplant 22:1131-1135
7. Gabriel SB, Schaffner SF, Nguyen H, Moore JM, Roy J, Blumenstiel B, Higgins J, DeFelice M, Lochner A, Faggart M, Liu-Cordero SN, Rotimi C, Adeyemo A, Cooper R, Ward R, Lander ES, Daly MJ, Altshuler D (2002) The structure of haplotype blocks in the human genome. Science 296:2225-2229
8. Harley JB, Alarcón-Riquelme ME, Criswell LA, Jacob CO, Kimberly RP, Moser KL, Tsao BP, Vyse TJ, Langefeld CD, Nath SK, Guthridge JM, Cobb BL, Mirel DB, Marion MC, Williams AH, Divers J, Wang W, Frank SG, Namjou B, Gabriel SB, Lee AT, Gregersen PK, Behrens TW, Taylor KE, Fernando M, Zidovetzki R, Gaffney PM, Edberg JC, Rioux JD, Ojwang JO, James JA, Merrill JT, Gilkeson GS, Seldin MF, Yin H, Baechler E, Li QZ C, Wakeland EK, Bruner GR, Kaufman KM, Kelly JA (2008) Genome-wide association scan in women with systemic lupus erythematosus identifies susceptibility variants in ITGAM, PXK, KIAA1542 and other loci. Nat Genet 40:204-210
9. Hipkiss AR, Preston JE, Himsworth DT, Worthington VC, Keown M, Michaelis J, Lawrence J, Mateen A, Allende L, Eagles PA, Abbott NJ (1998) Pluripotent protective effects of carnosine, a naturally occurring dipeptide. Ann N Y Acad Sci 854:37-53
10. Iyengar SK, Abboud HE, Goddard KA, Saad MF, Adler SG, Arar NH, Bowden DW, Duggirala R, Elston RC, Hanson RL, Ipp E, Kao WH, Kimmel PL, Klag MJ, Knowler WC, Meoni LA, Nelson RG, Nicholas SB, Pahl MV, Parekh RS, Quade SR, Rich SS, Rotter JI, Scavini M, Schelling JR, Sedor JR, Sehgal AR, Shah VO, Smith MW, Taylor KD, Winkler CA, Zager PG, Freedman BI (2007) Genome-wide scans for diabetic nephropathy and albuminuria in multiethnic populations: The family investigation of nephropathy and diabetes (FIND). Diabetes 56:1577-1585
11. Janssen B, Hohenadel D, Brinkkoetter P, Peters V, Rind N, Fischer C, Rychlik I, Cerna M, Romzova M, de Heer E, Baelde H, Bakker SJ, Zirie M, Rondeau E, Mathieson P, Saleem MA, Meyer J, Köppel H, Sauerhoefer S, Bartram CR, Nawroth P, Hammes HP, Yard BA, Zschocke J, van der Woude FJ (2005) Carnosine as a protective factor in diabetic nephropathy: association with a leucine repeat of the carnosinase gene CNDP1. Diabetes 54:2320-2327
12. 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
13. Riedl E, Koeppel H, Brinkkoetter P, Sternik P, Steinbeisser H, Sauerhoefer S, Janssen B, van der Woude FJ, Yard BA (2007) A CTG polymorphism in the CNDP1 gene determines the secretion of serum carnosinase in Cos-7 transfected cells. Diabetes 56:2410-2413
14. Sauerhöfer S, Yuan G, Braun GS, Deinzer M, Neumaier M, Gretz N, Floege J, Kriz W, van der Woude F, Moeller MJ (2007) L-carnosine, a substrate of carnosinase-1, influences glucose metabolism. Diabetes 56:2425-2432
15. 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
16. Sham PC, Curtis D (1995) Monte Carlo tests for associations between disease and alleles at highly polymorphic loci. Ann Hum Genet 59:97-105
17. Tang H, Peng J, Wang P, Risch NJ (2005) Estimation of individual admixture: Analytical and study design considerations. Genet Epidemiol 28:289-301
18. Teufel M, Saudek V, Ledig JP, Bernhardt A, Boularand S, Carreau A, Cairns NJ, Carter C, Cowley DJ, Duverger D, Ganzhorn AJ, Guenet C, Heintzelmann B, Laucher V, Sauvage C, Smirnova T (2003) Sequence identification and characterization of human carnosinase and a closely related non-specific dipeptidase. J Biol Chem 278:6521-6531
19. US Renal Data System (2008) USRDS 2008 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, Bethesda
20. Vardarli I, Baier LJ, Hanson RL, Akkoyun I, Fischer C, Rohmeiss P, Basci A, Bartram CR, Van Der Woude FJ, Janssen B (2002) Gene for susceptibility to diabetic nephropathy in type 2 diabetes maps to 18q22.3-23. Kidney Int 62:2176-2183
21. Wanic K, Placha G, Dunn J, Smiles A, Warram JH, Krolewski AS (2008) Exclusion of polymorphisms in carnosinase genes (CNDP1 and CNDP2) as cause of diabetic nephropathy in type 1 diabetes mellitus: Results of large case - control and follow - up studies. Diabetes 57:2547-2551
22. Wigginton JE, Cutler DJ, Abecasis GR (2005) A note on exact tests of Hardy-Weinberg equilibrium. Am J Hum Genet 76:887-893
23. Yu H, Bowden DW, Spray BJ, Rich SS, Freedman BI (1996) Linkage analysis between loci in the renin-angiotensin axis and end-stage renal disease in African Americans. J Am Soc Nephrol 7:2559-2564