The influence of the endothelin-converting enzyme-1 gene polymorphism on the progression of autosomal dominant polycystic kidney disease

Renal Failure

Volumn 28, Issue 1, 2006, Pages 21-24

  Reiterova J ^a   Merta, M ^a   Stekrova J ^a   Tesar, V ^a   Kmentova D ^a   Rihova Z ^a   Rysava R ^a   Viklicky O ^b  

^a CHARLES UNIVERSITY   (Czech Republic)

^b INSTITUTE FOR CLINICAL AND EXPERIMENTAL MEDICINE   (Czech Republic)

Author keywords

Autosomal dominant polycystic kidney disease; Endothelin 1; Endothelin converting enzyme; Modifier gene; Polymorphism

Indexed keywords

DNA; ENDOTHELIN CONVERTING ENZYME;

ADULT; ALLELE; ARTICLE; AUTOSOMAL DOMINANT DISORDER; BLOOD LEVEL; BLOOD SAMPLING; CLINICAL ARTICLE; CONTROLLED STUDY; CZECH REPUBLIC; DIGESTION; DISEASE COURSE; DNA POLYMORPHISM; FEMALE; GENETIC ANALYSIS; GENETIC POLYMORPHISM; GENOTYPE; HOMOZYGOTE; HUMAN; KIDNEY DISEASE; KIDNEY POLYCYSTIC DISEASE; MALE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RESTRICTION MAPPING;

ASPARTIC ENDOPEPTIDASES; DISEASE PROGRESSION; FEMALE; HUMANS; KIDNEY FAILURE, CHRONIC; MALE; METALLOENDOPEPTIDASES; MIDDLE AGED; POLYCYSTIC KIDNEY, AUTOSOMAL DOMINANT; POLYMORPHISM, GENETIC; RETROSPECTIVE STUDIES;

EID: 32644485647     PISSN: 0886022X     EISSN: 15256049     Source Type: Journal    
DOI: 10.1080/08860220500461211     Document Type: Article

References (20)

1. Ravine D, Walker RG, Gibson RN, et al. Phenotype and genotype heterogeneity in autosomal dominant polycystic kidney disease. Lancet. 1992;340:1330-1333.
2. Pirson Y, Chauveau D, Grunfeld JP. Autosomal dominant polycystic kidney disease. In: Cameron JS, Davison AM, Grunfeld JP, Kerr DNS, Ritz E, eds. Oxford Textbook of Clinical Nephrology. Oxford: Oxford University Press; 1998:2393-2415.
3. Hateboer A, Van Dijk MA, Bogdanova A, et al. Comparison of genotypes of polycystic kidney disease types 1 and 2. Lancet. 1999;353:103-107.
4. Woo DD, Nguen DK, Khatibi N, Olsen P. Genetic identification of two major modifier loci of polycystic kidney disease progression in pcy mice. J Clin Invest. 1997;100:1934-1940.
5. Upadhya P, Churchill G, Birkenmeier EH, Barker JA, Frankel WN. Genetic modifiers of polycystic kidney disease in intersubspecific KAT2J mutants. Genomic. 1999;58:129-137.
6. Persu A, Duyme M, Pirson Y, et al. Comparison between siblings and twins supports a role for modifier genes in ADPKD. Kidney Int. 2004;66(6):2132-2136.
7. Tevfik E, Schrier RW. Hypertension in autosomal dominant polycystic kidney disease: early occurence and unique aspects. J Am Soc Nephrol. 2001;12:194-200.
8. Munemura C, Uemasu J, Kawasaki H. Epidermal growth factor and endothelin in cyst fluid from autosomal dominant polycystic kidney disease cases: possible evidence of heterogeneity in cystogenesis. Am J Kidney Dis. 1994;24:561-568.
9. Giusti R, Neri M, Angelini D. Plasma concentration of endothelin and arterial pressure in patients with ADPKD. Contrib Nephrol. 1995;115:118-121.
10. Nakamura T, Ebihara I, Fukui M. Increased endothelin and endothelin receptor mRNA expression in polycystic kidneys of cpk mice. J Am Soc Nephrol. 1993;4:1064-1072.
11. Ong ACM, Newby LJ, Dashwood MR. Expression and cellular localisation of renal endothelin-1 and endothelin receptor subtypes in autosomal dominant polycystic kidney disease. Exp Nephrol. 2002;93:80-86.
12. Hocher B, Thone Reineke C, Rohmeiss P. Endothelin-1 transgenic mice develop glomerulosclerosis, interstitial fibrosis and renal cysts but not hypertension. J Clin Invest. 1997;99:1380-1389.
13. Xu D, Emoto A, Giaid A, Slaughter C, Kaw S, deWit D. ECE-1: a membrane-bound metalloprotease that catalyze the proteolytic activation of big endothelin-1. Cell. 1994;78:473-485.
14. Valdenaire O, Rohrbacher E, Mattei MG. Organization of the gene encoding the human endothelin-converting enzyme. J Biol Chem. 1995;270:29794-29798.
15. Valdenaire O, Lepailleur-Enouf D, Egidy G, Thouard A, Barret A, Vranck R. A fourth isoform of endothelin-converting enzyme is generated from an additional promoter molecular cloning and characterization. Eur J Biochem. 1999;264:341-349.
16. Funke-Kaiser H, Reichenberger F, Kopke K, Herrmann SM, Pfeifer J. Differential binding of transcription factor E2F-2 to the endothelin-converting enzyme-1b promoter affects blood pressure regulation. Hum Mol Genet. 2003;12:423-433.
17. Funalot B, Courbon D, Brousseau T, Poirier O, Berr C, Cambien F. Genes encoding endothelin-converting enzyme-1 and endothelin-1 interact to influence blood pressure in women: the EVA study. J Hypertens. 2004;22:739-43.
18. Muller E, Barret A, Etienne E, Meidan R, Valdenaire O, Corvol P. Heterodimerization of endothelin-converting enzyme-1 isoforms regulates the subcellular distribution of this metalloprotease. J Biol Chem. 2003;278:545-555.
19. D'Orleans-Juste P, Plante M, Honoré JC, Carrier E, Labonte J. Synthesis and degradation of endothelin-1. Can J Physiol Pharmacol. 2003;81:503-510.
20. Johnson GD, Stevenson T, Ahn K. Hydrolysis of peptide hormones by endothelin-converting enzyme-1. A comparison with neprilysin. J Biol Chem. 1999;274:4053-4058.