Association between the N-acetylation genetic polymorphism and aspirin-induced urticartia

• Autorzy: Porębski G. , Obtulowicz K. , Piwowar M. , Roterman-Konieczna I.
• Języki publikacji: EN

Abstrakty

EN

N-acetylation represents one of the key pharmacogenetic traits in metabolism of xenobiotics, including drugs. Dominance of ‘slow-acetylators’ has been demonstrated in atopic patients, contact allergy and has been investigated in patients with sulfonamide hypersensitivity. The aim of this survey was to assess genotype of N-acetyltransferase2 (NAT2) polymorphism in patients with aspirin-induced urticaria (AIU). To the study we included 24 consecutive patients with medical history of urticaria induced by aspirin and 123 healthy controls. In the patients’ group oral provocation tests (OPT) up to 565mg cumulative dose of acetylsalicylic acid were performed. The NAT2 alleles (*4-wilde type, *5, *6 and *7) were determined by polymerase chain reaction-restriction fragment length polymorphism method with DNA extracted from peripherial blood. It was observed 53.7% of slow acetylators in the control group, and respectively 66.7%, 83.3% and 100% in the patients with AIU, in patients with positive OPT and in patients with positive reaction in OPT assessed as severe. Statistical significance association between NAT2*5/NAT2*6 genotype and aspirin-induced urticaria was revealed. The linkage of AIU and slow acetylation (NAT2*5/NAT2*6) seems to be highly probable in the patients with medical history of skin hypersensitivity to aspirin confirmed by positive oral provocation test.

Słowa kluczowe

EN

urticaria; acetylsalicylic acid; NAT2; polymorphism

• Wydawca: Uniwersytet Jagielloński - Collegium Medicum ; Index Copernicus Sp. z o.o.
• Czasopismo: Bio-Algorithms and Med-Systems
• Rocznik: 2008
• Tom: Vol. 4, no. 8
• Strony: 19--23
• Opis fizyczny: Bibliogr. 31 poz., tab.

Twórcy

autor

Porębski G.

• Jagiellonian University, Medical College, Department of Clinical and Environmental Allergology, Jagiellonian University, Sniadeckich 10, 31-531 Cracow, Poland

autor

Obtulowicz K.

• Jagiellonian University, Medical College, Department of Clinical and Environmental Allergology, Jagiellonian University, Sniadeckich 10, 31-531 Cracow, Poland

autor

Piwowar M.

• Jagiellonian University, Medical College, Department of Bioinformatics and Telemedicine, Jagiellonian University, Łazarza 16, 31-530 Cracow, Poland

autor

Roterman-Konieczna I.

• Jagiellonian University, Medical College, Department of Bioinformatics and Telemedicine
• Jagiellonian University, Łazarza 16, 31-530 Cracow, Poland

Bibliografia

• 1. Demoly P., Bousquet J. (2002), Drug allergy diagnosis work up. Allergy 57, Suppl. 72: 37-40.
• 2. Szczeklik A., Nizankowska-Mogilnicka E., Sanak M. (2007), Hypersensitivity to Aspiryn and Other NSAIDs: Mechanisms, Clinical Presentation and Management, in: Drug Hypersensitivity, W.J. Pichler (ed.). Basel, Karger, pp. 340-349.
• 3. Mastalerz L., Setkowicz M., Sanak M., Szczeklik A. (2004), Hypersensitivity to aspirin: common eicosanoid alterations in urticaria and asthma. J. Allergy Clin. Immunol. 113: 771-5.
• 4. Rainsford K.D. (2004), Side Effects and Toxicology of the Salicylates, in: Aspirin and Related Drugs, K.D. Rainsford (ed.). London and New York, Taylor & Francis, pp. 367-554.
• 5. Gawronska-Szklarz B., Luszawska-Kutrzeba T., Czaja-Bulsa G., Kurzawski G. (1999), Relationship between acetylation polymorphism and risk of atopic diseases. Clin. Pharmacol. Ther. 65: 562-9.
• 6. Kawakubo Y., Merk H.F., Masaoudi T.A., Sieben S., Blomeke B. (2000), N-acetylation of paraphenylenediamine in human skin and keratinocytes. J. Pharmacol. Exp. Ther. 292: 150-5.
• 7. Alfirevic A., Stalford A.C., Vilar F.J., Wilkins E.G., Park B.K., Pirmohamed M. (2003), Slow acetylator phenotype and genotype in HIV-positive patients with sulphamethoxazole hypersensitivity. Br. J. Clin. Pharmacol. 55: 158-65.
• 8. Blum M., Demierre A., Grant D.M., Heim M., Meyer U.A. (1991), Molecular mechanism of slow acetylation of drugs and carcinogens in humans. Proc. Natl. Acad. Sci. USA. 88: 5237-41.
• 9. Weber W.W., Hein D.W. (1985), N-acetylation pharmacogenetics. Pharmacol. Rev. 37: 25-79.
• 10. Hickman D., Sim E. (1991), N-acetyltransferase polymorphism. Comparison of phenotype and genotype in humans. Biochem. Pharmacol. 42: 1007-14.
• 11. Clark D.W. (1985), Genetically determined variability in acetylation and oxidation. Therapeutic Implications. Drugs. Apr 29(4): 342-75.
• 12. Grant D.M. (1993), Molecular genetics of the N-acetyltransferases. Pharmacogenetics. 3: 45-50.
• 13. Vatsis K.P., Weber W.W., Bell D.A. et al. (1995), Nomenclature for N-acetyltransferases. Pharmacogenetics. 5: 1-17.
• 14. Vatsis K.P., Martell K.J., Weber W.W. (1991), Diverse point mutations in the human gene for polymorphic N-acetyltransferase. Proc. Natl. Acad. Sci. USA. 88: 6333-7.
• 15. Cascorbi I., Drakoulis N., Brockmoller J., Maurer A., Sperling K., Roots I. (1995), Arylamine N-acetyltransferase (NAT2) mutations and their allelic linkage in unrelated Caucasian individuals: correlation with phenotypic activity. Am. J. Hum. Genet. 57: 581-92.
• 16. Pontes Z.B., Vincent-Viry M., Gueguen R., Galteau M.M., Siest G. (1993), Acetylation phenotypes and biological variation in a French Caucasian population. Eur. J. Clin. Chem. Clin. Biochem. 31: 59-68.
• 17. Hunter D.J. (2005), Gene-environment interactions in human diseases. Nat. Rev. Genet. Apr 6(4): 287-98. Review.
• 18. Martinez F.D. (2005), Gene-environment interactions in asthma and allergies: a new paradigm to understand disease causation. Immunol. Allergy Clin. North Am. 25: 709-721.
• 19. Spinka C., Carroll R.J., Chatterjee N. (2005), Analysis of case-control studies of genetic and environmental factors with missing genetic information and haplotype-phase ambiguity. Genet. Epidemiol. Sep 29(2): 108-27.
• 20. http://www.ncbi.nlm.nih.gov/SNP.
• 21. Nizankowska-Mogilnicka E., Bochenek G., Mastalerz L. et al. (2007), EAACI/GA2LEN guideline: aspirin provocation tests for diagnosis of aspirin hypersensitivity. Allergy. 22.
• 22. Spurr N.K., Gough A.C., Chinegwundoh F.I., Smith C.A. (1995), Polymorphisms in drug-metabolizing enzymes as modifiers of cancer risk. Clin. Chem. 41: 1864-9.
• 23. Gawronska-Szklarz B., Gornik W., Pawlik A. et al. (1997), N-acetylation and hydroxylation polymorphisms in type II diabetics with microvascular disturbances. Eur. J. Clin. Pharmacol. 51: 431-5.
• 24. Zielinska E., Niewiarowski W., Bodalski J., Stanczyk A., Bolanowski W., Rebowski G. (1997), Arylamine N-acetyl-transferase (NAT2) gene mutations in children with allergic diseases. Clin. Pharmacol. Ther. 62: 635-42.
• 25. Vatsis K.P., Weber W.W. (1993), Structural heterogeneity of Caucasian N-acetyltransferase at the NAT1 gene locus. Arch. Biochem. Biophys. 301: 71-6.
• 26. Bouchardy C., Mitrunen K., Wikman H. et al. (1998), N-acetyltransferase NAT1 and NAT2 genotypes and lung cancer risk. Pharmacogenetics. 8: 291-8.
• 27. Nacak M., Aynacioglu A.S., Filiz A. et al. (2002), Association between the N-acetylation genetic polymorphism and bronchial asthma. Br. J. Clin. Pharmacol. 54: 671-4.
• 28. Schwartz M.A., Amidon G. (1966), Reaction of aspiryn with amines. Potential mechanism. J. Pharm. Sci. 55: 1464-5.
• 29. Kallos P., Schlumberger H.D. (1978), Immunogenic impurities’ in acetylsalicylic acid. J. Pharm. Pharmacol. 30: 67-8.
• 30. Minden P., Farr R.S. (1967), Human antibodies against acetylsalicylic acid altered human serum albumin. Arthritis Rheum. 10: 399.
• 31. Flemstorm G., Marsden N.V., Richter W. (1976), Passive cutaneous anaphylaxis in guinea pigs elicited by gastric absorption of dextran induced by acetylsalicylic acid. Int. Arch. Allergy Appl. Immunol. 51: 627-36.