Is Carnosinase 1 Gene (CNDP1) Polymorphism Associated with Chronic Kidney Disease Progression in Children and Young Adults? Results of a Family-based Study

Archives of Medical Research

Volumn 41, Issue 5, 2010, Pages 356-362

  Kiliś Pstrusińska, Katarzyna ^a   Zwolińska, Danuta ^a   Grzeszczak, Władysław ^b,c,d,e  

^a WROCLAW MEDICAL UNIVERSITY   (Poland)

^b MEDICAL UNIVERSITY OF SILESIA   (Poland)

^c JAGIELLONIAN UNIVERSITY MEDICAL COLLEGE   (Poland)

^d Department of Poznań Katarzyna Madziarska ^*  (Poland)

^e Nephrology and Dialysis Centre   (Poland)

Author keywords

Carnosinase; Chronic kidney disease; CNDP1 polymorphism; Family based study; Transmission disequilibrium test

Indexed keywords

CARNOSINASE 1; METALLOPROTEINASE; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ARTICLE; CASE CONTROL STUDY; CHILD; CHRONIC GLOMERULONEPHRITIS; CHRONIC KIDNEY DISEASE; CONTROLLED STUDY; DISEASE COURSE; DNA POLYMORPHISM; ENZYME ACTIVITY; FAMILY STUDY; FEMALE; HUMAN; INFANT; INTERSTITIAL NEPHRITIS; MAJOR CLINICAL STUDY; MALE; PRESCHOOL CHILD; SCHOOL CHILD;

ADOLESCENT; CASE-CONTROL STUDIES; CHILD; CHILD, PRESCHOOL; DIPEPTIDASES; DISEASE PROGRESSION; FEMALE; HUMANS; KIDNEY FAILURE, CHRONIC; MALE; POLYMORPHISM, GENETIC;

EID: 77956798151     PISSN: 01884409     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.arcmed.2010.07.006     Document Type: Article

References (26)

1. Eikmans M., Aben J.A., Koop K., et al. Genetic factors in progressive renal disease: the good ones, the bad ones and the ugly ducklings. Nephrol Dial Transpl 2006, 21:257-260.
2. Klahr S., Morrissey J. Progression of chronic renal disease. Am J Kidney Dis 2003, 41(3 suppl 1):S3-S7.
3. El Nahas A.M. The global challenge of chronic kidney disease. Kidney Int 2005, 68:2918-2929.
4. Chow K.M., Wong T.Y., Li P.K. Genetics of common progressive renal disease. Kidney Int Suppl 2005, 94:S41-S45.
5. Satko S.G., Freedman B.I., Moosavi S. Genetic factors in end-stage renal disease. Kidney Int Suppl 2005, 67:S46-S49.
6. 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 2005, 54:2320-2327.
7. Teufel M., Saudek V., Ledig J.P., et al. Sequence identification and characterization of human carnosinase and a closely related non-specific dipeptidase. J Biol Chem 2003, 278:6521-6531.
8. Alhamdani M.S., Al-Azzawie H.F., Abbas F.K. Decreased formation of advanced glycation end-products in peritoneal fluid by carnosine and related peptides. Perit Dial Int 2007, 27:86-89.
9. Alhamdani M.S., Al-Kassir A.H., Abbas F.K., et al. Antiglycation and antioxidant effect of carnosine against glucose degradation products in peritoneal mesothelial cells. Nephron Clin Pract 2007, 107:c26-c34.
10. Boldyrev A.A. Problems and perspectives in studying the biological role of carnosine. Biochemistry (Mosc) 2000, 65:751-756.
11. Guiotto A., Calderan A., Ruzza P., et al. Carnosine and carnosine-related antioxidants: a review. Curr Med Chem 2005, 12:2293-2315.
12. Hipkiss A.R., Chana H. Carnosinase protects proteins against methylgloxal-mediated modifications. Biochem Biophys Res Commun 1998, 248:28-32.
13. Roberts P.R., Zaloga G.P. Cardiovascular effects of carnosine. Biochemistry (Mosc) 2000, 65:856-861.
14. Cuzzocrea S., Genovese T., Failla M., et al. Protective effect of orally administered carnosine on bleomycin-induced lung injury. Am J Physiol Lung Cell Mol Physiol 2007, 292:L1095-L1104.
15. Freedman B.I., Hicks P.J., Sale M.M., et al. A leucine repeat in the carnosinase gene CNDP1 is associated with diabetic end-stage renal disease in European Americans. Nephrol Dial Transpl 2007, 22:1131-1135.
16. Ewens W.J., Spielman R.S. The transmission/disequilibrium test: history, subdivision, and admixture. Am J Hum Genet 1995, 57:455-464.
17. Ewens W.J., Spielman R.S. What is the significance of a significant TDT?. Hum Hered 2005, 60:206-210.
18. K/DOQI Clinical Practice Guidelines for Chronic Kidney Disease: Evaluation, Classification and Stratification. Am J Kidney Dis 2002, 39(suppl 1).
19. Lenney J.F., George R.P., Weiss A.M., et al. Human serum carnosinase: characterization, distinction from cellular carnosinase, and activation by cadmium. Clin Chim Acta 1982, 123:221-231.
20. McDonough C.W., Hicks P.J., Lu L., et al. The influence of carnosinase gene polymorphisms on diabetic nephropathy risk in African-Americans. Hum Genet 2009, 126:265-275.
21. Wanic K., Placha G., Dunn J., et al. Exclusion of polymorphisms in carnosinase genes (CNDP1 and CNDP2) as a cause of diabetic nephropathy in type 1 diabetes: results of large case-control and follow-up studies. Diabetes 2008, 57:2547-2551.
22. Riedl E., Koeppel H., Brinkkoetter P., et al. A CTG polymorphism in the CNDP1 gene determines the secretion of serum carnosinase in Cos-7 transfected cells. Diabetes 2007, 56:2410-2413.
23. Vanholder R., Cornelis R., Dhondt A., et al. The role of trace elements in uraemic toxicity. Nephrol Dial Transpl 2002, 17(suppl 2):2-8.
24. Kohen R., Yammamoto Y., Cundy K.C., et al. Antioxidant activity of carnosine, homocarnosine, and anserine present in muscle and brain. Proc Natl Acad Sci USA 1988, 85:3175-3179.
25. Schoen P., Everts H., de Boer T., et al. Serum carnosinase activity in plasma and serum:validation of a method and values in cardiopulmonary bypass surgery. Clin Chem 2003, 49:1930-1932.
26. Wassif W.S., Sherwood R.A., Amir A., et al. Serum carnosinase activities in central nervous system disorders. Clin Chim Acta 1994, 225:57-64.