Paraoxonase (PON1) gene polymorphisms in fabry disease: Correlation with renal disease

Nephron - Clinical Practice

Volumn 116, Issue 4, 2010, Pages

  Shemesh, Tamar ^a   Whybra, Catharina ^b   Delgado Sanchez, Sandra ^b   Beck, Michael ^b   Elstein, Deborah ^a   Altarescu, Gheona ^a  

^a SHAARE ZEDEK MEDICAL CENTER   (Israel)

^b JOHANNES GUTENBERG UNIVERSITY   (Germany)

Author keywords

Fabry disease; Paraoxonase; Polymorphisms; Renal disease; Severity score

Indexed keywords

ALPHA GALACTOSIDASE; ARYLDIALKYLPHOSPHATASE 1;

ADOLESCENT; ADULT; AGED; ARTERY INTIMA PROLIFERATION; ARTICLE; CARDIOMYOPATHY; CHILD; CONTROLLED STUDY; DISEASE SEVERITY; FABRY DISEASE; FEMALE; GENETIC POLYMORPHISM; GENOTYPE; HUMAN; KIDNEY FAILURE; MAINZ SEVERITY SCORE INDEX; MAJOR CLINICAL STUDY; MALE; PRIORITY JOURNAL; PROGNOSIS; SCORING SYSTEM; STROKE;

ADOLESCENT; ADULT; AGED; ARYLDIALKYLPHOSPHATASE; CHILD; CHILD, PRESCHOOL; COHORT STUDIES; FABRY DISEASE; FEMALE; GENETIC MARKERS; HUMANS; KIDNEY DISEASES; MALE; MIDDLE AGED; POLYMORPHISM, GENETIC; YOUNG ADULT;

EID: 77954560406     PISSN: 16602110     EISSN: None     Source Type: Journal    
DOI: 10.1159/000318791     Document Type: Article

References (25)

1. Brady RO, Gal AE, Bradley RM, Martensson E, Warshaw AL, Laster L: Enzymatic defect in Fabry's disease. Ceramidetrihexosidase deficiency. N Engl J Med 1967; 276:1163-1167.
2. Mehta A, Ricci R, Widmer U, et al: Fabry disease defined: baseline clinical manifestations of 366 patients in the Fabry Outcome Sur vey. Eur J Clin Invest 20 04; 34: 236-242.
3. Altarescu G, Elstein D: Cardiac abnormalities in Fabry disease: natural history in hemizygote males suggests that cardiac pathology is universally present. Haema 2004; 8:103-108.
4. Moore DF, Kaneski CR, Askari H, Schiff-mann R: The cerebral vasculopathy of Fabry disease. J Neurol Sci 2007; 257: 258-263.
5. Eng CM, Germain DP, Banikazemi M, War-nock DG, Wanner C, Hopkin RJ, Bultas J, Lee P, Sims K, Brodie SE, Pastores GM, Strot-mann JM, Wilcox WR: Fabry disease: guidelines for the evaluation and management of multi-organ system involvement. Genet Med 2006; 8: 539-54 8.
6. Kalliokoski RJ, Kalliokoski KK, Penttinen M, Kantola I, Leino A, Viikari JS, Simell O, Nuutila P, Raitakari OT: Structural and functional changes in peripheral vasculature of Fabry patients. J Inherit Metab Dis 2006; 29:660-666.
7. Ortiz A, Oliveira JP, Waldek S, Warnock DG, Cianciaruso B, Wanner C; Fabry Registry: Nephropathy in males and females with Fa-bry disease: cross-sectional description of patients before treatment with enzyme replacement therapy. Nephrol Dial Transplant 2008; 23: 1600-1607.
8. Altarescu G, Moore D, Schiffmann R: Effect of genetic modifiers on cerebral lesions in Fabry disease. Neurology 2005; 64:2148-2150.
9. Safyan R, Whybra C, Beck M, Elstein D, Al-tarescu G: An association study of inflammatory cytokine gene polymorphisms in Fabry disease. Eur Cytokine Netw 2006; 17: 271-275.
10. Martinelli N, Girelli D, Olivieri O, Cavallari U, Biscuola M, Trabetti E, Friso S, Pizzolo F, Tenuti I, Bozzini C, Villa G, Ceradini B, Sandri M, Cheng S, Grow MA, Pignatti PF, Corrocher R: Interaction between metabolic syndrome and PON1 polymorphisms as a determinant of the risk of coronary artery disease. Clin Exp Med 2005; 5:20-30.
11. Gullulu M, Kahvecioglu S, Dirican M, Akdag I, Ocak N, Demircan C, Dilek K, Ersoy A, Yavuz M, Yurtkuran M: Paraoxonase activity in glomerulonephritic patients. Ren Fail 2007; 29:433-439.
12. Bhattacharyya T, Nicholls SJ, Topol EJ, Zhang R, Yang X, Schmitt D, Fu X, Shao M, Brennan DM, Ellis SG, Brennan ML, Allayee H, Lusis AJ, Hazen SL: Relationship of para-oxonase 1 (PON1) gene polymorphisms and functional activity with systemic oxidative stress and cardiovascular risk. JAMA 2008; 299:1265-1276.
13. Najafi M, Firoozrai M, Gohari HL, Zavare-hie A, Basiri G: Direct haplotyping of biallelic SNPs using ARMS and RFLP analysis techniques. Biomol Eng 2007; 24:609-612.
14. Whybra C, Kampmann C, Krummenauer F, Ries M, Mengel E, Miebach E, Baehner F, Kim K, Bajbouj M, Schwarting A, Gal A, Beck M: The Mainz Severity Score Index: a new instrument for quantifying the Ander-son-Fabry disease phenotype, and the response of patients to enzyme replacement therapy. Clin Genet 2004; 65:299.
15. Poulakou MV, Paraskevas KI, Vlachos IS, Karabina SA, Wilson MR, Iliopoulos DC, Tsitsilonis SI, Mikhailidis DP, Perrea DN: Effect of statins on serum apolipoprotein j and paraoxonase-1 levels in patients with isch-emic heart disease undergoing coronary an-giography. Angiology 2008; 59: 137-14 4.
16. Ferretti G, Bacchetti T, Masciangelo S, Na-netti L, Mazzanti L, Silvestrini M, Bartolini M, Provinciali L: Lipid peroxidation in stroke patients. Clin Chem Lab Med 2008; 46:113-117.
17. Ikeda Y, Suehiro T, Itahara T, Inui Y, Chika-zawa H, Inoue M, Arii K, Hashimoto K: Human serum paraoxonase concentration predicts cardiovascular mortality in hemodi-alysis patients. Clin Nephrol 2007; 67: 358-365.
18. Harangi M, Seres I, Magyar MT, Csipo I, Sip-ka S, Valikovics A, Csiba L, Bereczki D, Paragh G: Association between human para-oxonase 1 activity and intima-media thickness in subjects under 55 years of age with carotid artery disease. Cerebrovasc Dis 2008; 25:122-128.
19. Thyagarajan B, Jacobs DR Jr, Carr JJ, Alozie O, Steffes MW, Kailash P, Hayes JH, Gross MD: Factors associated with paraoxonase genotypes and activity in a diverse, young, healthy population: the Coronary Artery Risk Development in Young Adults (CAR-DIA) study. Clin Chem 2008; 54:738-746.
20. Schiavon R, Turazzini M, De Fanti E, Batta-glia P, Targa L, Del Colle R, Fasolin A, Silve-stri M, Biasioli S, Guidi G: PON1 activ it y a nd genotype in patients with arterial ischemic stroke and in healthy individuals. Acta Neu-rol Scand 2007; 116: 26-30.
21. Can Demirdö?en B, Türkano?lu A, Bek S, Saniso?lu Y, Demirkaya S, Vural O, Arinç E, Adali O: Paraoxonase/arylesterase ratio, PON1 192Q/R polymorphism and PON1 status are associated with increased risk of ischemic stroke. Clin Biochem 2008; 41: 1-9.
22. Tripi LM, Manzi S, Chen Q, Kenney M, Shaw P, Kao A, Bontempo F, Kammerer C, Kam-boh MI: Relationship of serum paraoxonase 1 activity and paraoxonase 1 genotype to risk of systemic lupus erythematosus. Arthritis R heum 2006; 54: 1928-1939.
23. Kovács TJ, Harris S, Vas TK, Seres I, Short CD, Wittmann IK, Paragh G, Mackness MI, Mackness B, Durrington PN, Nagy JM, Brenchley PE: Paraoxonase gene polymorphism and serum activity in progressive IgA nephropathy. J Nephrol 2006; 19: 732-738.
24. Garcés C, López-Simón L, Rubio R, Bena-vente M, Cano B, Ortega H, de Oya M: Hig h-density lipoprotein cholesterol and paraox-onase 1 (PON1) genetics and serum PON1 activity in prepubertal children in Spain. Clin Chem Lab Med 2008; 46: 809-813.
25. Sanghera DK, Manzi S, Minster RL, Shaw P, Kao A, Bontempo F, Kamboh MI: Genetic variation in the paraoxonase-3 (PON3) gene is associated with serum PON1 activity. Ann Hum Genet 2008; 72:7 2-8 1.