Genome-wide association study in NSAID-induced acute urticaria/angioedema in Spanish and Han Chinese populations

Pharmacogenomics

Volumn 14, Issue 15, 2013, Pages 1857-1869

  Cornejo García, José Antonio ^a   Liou, Lieh Bang ^b,c   Blanca López, Natalia ^d   Doña, Inmaculada ^a   Chen, Chien Hsiun ^e   Chou, Yi Chun ^e   Chuang, Hui Ping ^e   Wu, Jer Yuarn ^e   Chen, Yuan Tsong ^e   Plaza Serón, María Del Carmen ^a   Mayorga, Cristobalina ^a   Guéant Rodríguez, Rosa María ^f,g   Lin, Shih Chang ^h   Torres, María José ^a   Campo, Paloma ^a   Rondón, Carmen ^a   Laguna, José Julio ⁱ   Fernández, Javier ^j   Guéant, Jean Louis ^f,g   Canto, Gabriela ^d   Blanca, Miguel ^a   Lee, Ming Ta Michael ^e,k,l   more..

^a UGC Allergy   (Spain)

^b CHANG GUNG MEMORIAL HOSPITAL   (Taiwan)

^c CHANG GUNG UNIVERSITY COLLEGE OF MEDICINE   (Taiwan)

^d HOSPITAL UNIVERSITARIO INFANTA LEONOR   (Spain)

^e INSTITUTE OF BIOMEDICAL SCIENCES   (Taiwan)

^f UNIVERSITÉ DE LORRAINE   (France)

^g UNIVERSITY HOSPITAL OF NANCY   (France)

^h CATHAY GENERAL HOSPITAL   (Taiwan)

ⁱ HOSPITAL CENTRAL DE LA CRUZ ROJA   (Spain)

^j HOSPITAL GENERAL UNIVERSITARIO DE ALICANTE   (Spain)

^k Institute of Physical and Chemical Research   (Japan)

^l CHINA MEDICAL UNIVERSITY   (Taiwan)

more..

Author keywords

Acute urticaria angioedema; Drug hypersensitivity; Genome wide association study; Mast cells; NSAIDs

Indexed keywords

ACETYLSALICYLIC ACID; CALCIUM ION; CYCLIC AMP; NONSTEROID ANTIINFLAMMATORY AGENT; PROPIONIC ACID DERIVATIVE; PROTEIN P53; PYRAZOLONE DERIVATIVE;

ABI3BP GENE; ACUTE URTICARIA ANGIOEDEMA; ADULT; ALLELE; ANGIONEUROTIC EDEMA; ARTICLE; BICC1 GENE; CHINESE; COL24A1 GENE; CONTROLLED STUDY; ETHNIC GROUP; FBXL7 GENE; FEMALE; GALNAC T13 GENE; GENETIC ASSOCIATION; GENOTYPE; HLF GENE; HUMAN; MAJOR CLINICAL STUDY; MALE; QUALITY CONTROL; RAD51L1 GENE; RIMS1 GENE; SINGLE NUCLEOTIDE POLYMORPHISM; SPANISH; URTICARIA;

ADULT; ANGIOEDEMA; ANTI-INFLAMMATORY AGENTS, NON-STEROIDAL; ASIAN CONTINENTAL ANCESTRY GROUP; CALCIUM; CASE-CONTROL STUDIES; CYCLIC AMP; DRUG HYPERSENSITIVITY; FEMALE; GENOME-WIDE ASSOCIATION STUDY; GENOTYPE; HISPANIC AMERICANS; HUMANS; MALE; MIDDLE AGED; TUMOR SUPPRESSOR PROTEIN P53; URTICARIA;

EID: 84893493861     PISSN: 14622416     EISSN: 17448042     Source Type: Journal    
DOI: 10.2217/pgs.13.166     Document Type: Article

References (72)

1. Fosbol EL, Gislason GH, Jacobsen S et al. The pattern of use of non-steroidal anti-inflammatory drugs (NSAIDs) from 1997 to 2005: a nationwide study on 4.6 million people. Pharmacoepidemiol. Drug Saf. 17(8), 822-833 (2008).
2. Motola D, Vaccheri A, Silvani MC et al. Pattern of NSAID use in the Italian general population: a questionnaire-based survey. Eur. J. Clin. Pharmacol. 60(10), 731-738 (2004).
3. Kowalski ML, Makowska JS, Blanca M et al. Hypersensitivity to nonsteroidal anti-inflammatory drugs (NSAIDs) - classification, diagnosis and management: review of the EAACI/ENDA(#) and GA2LEN/HANNAz.ast;. Allergy 66(7), 818-829 (2011).
4. Szczeklik A, Nizankowska E, Sanak M. Hypersensitivity to aspirin and non-steroidal antiinflammatory drugs. In: Midleton's Allergy, Principles and Practice. Adkinson Nf BB, Busse WW, Holgate S, Lemanske RF, Simons FE (Eds). Mosby, PA, USA, 1227-1243 (2009).
5. Dona I, Blanca-Lopez N, Cornejo-Garcia JA et al. Characteristics of subjects experiencing hypersensitivity to non-steroidal anti-inflammatory drugs: patterns of response. Clin. Exp. Allergy 41(1), 86-95 (2011).
6. Dona I, Blanca-Lopez N, Torres MJ et al. Drug hypersensitivity reactions: response patterns, drug involved, and temporal variations in a large series of patients. J. Investig. Allergol. Clin. Immunol. 22(5), 363-371 (2012).
7. Cornejo-Garcia JA, Blanca-Lopez N, Dona I et al. Hypersensitivity reactions to non-steroidal anti-inflammatory drugs. Curr. Drug Metab. 10(9), 971-980 (2009).
8. Romano A, Torres MJ, Castells M, Sanz ML, Blanca M. Diagnosis and management of drug hypersensitivity reactions. J. Allergy Clin. Immunol. 127(3 Suppl.), S67-S73 (2011).
9. Szczeklik A, Gryglewski RJ, Czerniawska- Mysik G. Relationship of inhibition of prostaglandin biosynthesis by analgesics to asthma attacks in aspirin-sensitive patients. Br. Med. J. 1(5949), 67-69 (1975).
10. Christie PE, Tagari P, Ford-Hutchinson AW et al. Urinary leukotriene E4 after lysine-aspirin inhalation in asthmatic subjects. Am. Rev. Respir. Dis. 146(6), 1531-1534 (1992).
11. Gaber F, Daham K, Higashi A et al. Increased levels of cysteinyl-leukotrienes in saliva, induced sputum, urine and blood from patients with aspirin-intolerant asthma. Thorax 63(12), 1076-1082 (2008).
12. Antczak A, Montuschi P, Kharitonov S, Gorski P, Barnes PJ. Increased exhaled cysteinyl-leukotrienes and 8-isoprostane in aspirin-induced asthma. Am. J. Respir. Crit. Care Med. 166(3), 301-306 (2002). (Pubitemid 34864417)
13. Cowburn AS, Sladek K, Soja J et al. Overexpression of leukotriene C4 synthase in bronchial biopsies from patients with aspirin-intolerant asthma. J. Clin. Investig. 101(4), 834-846 (1998). (Pubitemid 28096081)
14. Sanak M, Kielbasa B, Bochenek G, Szczeklik A. Exhaled eicosanoids following oral aspirin challenge in asthmatic patients. Clin. Exp. Allergy 34(12), 1899-1904 (2004). (Pubitemid 40023641)
15. Swierczynska M, Nizankowska-Mogilnicka E, Zarychta J, Gielicz A, Szczeklik A. Nasal versus bronchial and nasal response to oral aspirin challenge: Clinical and biochemical differences between patients with aspirin-induced asthma/rhinitis. J. Allergy Clin. Immunol. 112(5), 995-1001 (2003). (Pubitemid 37412071)
16. Szczeklik A, Sladek K, Dworski R et al. Bronchial aspirin challenge causes specific eicosanoid response in aspirin-sensitive asthmatics. Am. J. Respir. Crit. Care Med. 154(6 Pt 1), 1608-1614 (1996). (Pubitemid 26424923)
17. Mastalerz L, Setkowicz M, Sanak M, Szczeklik A. Hypersensitivity to aspirin: common eicosanoid alterations in urticaria and asthma. J. Allergy Clin. Immunol. 113(4), 771-775 (2004). (Pubitemid 38530435)
18. Setkowicz M, Mastalerz L, Podolec-Rubis M, Sanak M, Szczeklik A. Clinical course and urinary eicosanoids in patients with aspirin-induced urticaria followed up for 4 years. J. Allergy Clin. Immunol. 123(1), 174-178 (2009).
19. Mastalerz L, Sanak M, Gawlewicz-Mroczka A, Gielicz A, Cmiel A, Szczeklik A. Prostaglandin E2 systemic production in patients with asthma with and without aspirin hypersensitivity. Thorax 63(1), 27-34 (2008).
20. Sanak M, Gielicz A, Bochenek G, Kaszuba M, Nizankowska-Mogilnicka E, Szczeklik A. Targeted eicosanoid lipidomics of exhaled breath condensate provide a distinct pattern in the aspirin-intolerant asthma phenotype. J. Allergy Clin. Immunol. 127(5), 1141-1147.e1142 (2011).
21. Higashi N, Mita H, Ono E et al. Profile of eicosanoid generation in aspirin-intolerant asthma and anaphylaxis assessed by new biomarkers. J. Allergy Clin. Immunol. 125(5), 1084-1091.e1086 (2010).
22. Gray PA, Warner TD, Vojnovic I et al. Effects of non-steroidal anti-inflammatory drugs on cyclo-oxygenase and lipoxygenase activity in whole blood from aspirin-sensitive asthmatics vs healthy donors. Br. J. Pharmacol. 137(7), 1031-1038 (2002). (Pubitemid 35440743)
23. Duroudier NP, Tulah AS, Sayers I. Leukotriene pathway genetics and pharmacogenetics in allergy. Allergy 64(6), 823-839 (2009).
24. Kim SH, Ye YM, Palikhe NS, Kim JE, Park HS. Genetic and ethnic risk factors associated with drug hypersensitivity. Curr. Opin. Allergy Clin. Immunol. 10(4), 280-290 (2010).
25. Choi JH, Park HS, Oh HB et al. Leukotriene-related gene polymorphisms in ASA-intolerant asthma: an association with a haplotype of 5-lipoxygenase. Hum. Genet. 114(4), 337-344 (2004).
26. Jinnai N, Sakagami T, Sekigawa T et al. Polymorphisms in the prostaglandin E2 receptor subtype 2 gene confer susceptibility to aspirin-intolerant asthma: a candidate gene approach. Hum. Mol. Genet. 13(24), 3203-3217 (2004). (Pubitemid 40045272)
27. Kim SH, Choi JH, Holloway JW et al. Leukotriene-related gene polymorphisms in patients with aspirin-intolerant urticaria and aspirin-intolerant asthma: differing contributions of ALOX5 polymorphism in Korean population. J. Korean Med. Sci. 20(6), 926-931 (2005). (Pubitemid 43161853)
28. Kim SH, Oh JM, Kim YS et al. Cysteinyl leukotriene receptor 1 promoter polymorphism is associated with aspirin-intolerant asthma in males. Clin. Exp. Allergy 36(4), 433-439 (2006).
29. Kim SH, Yang EM, Park HJ, Ye YM, Lee HY, Park HS. Differential contribution of the CysLTR1 gene in patients with aspirin hypersensitivity. J. Clin. Immunol. 27(6), 613-619 (2007).
30. Park JS, Chang HS, Park CS et al. Association analysis of cysteinyl-leukotriene receptor 2 (CYSLTR2) polymorphisms with aspirin intolerance in asthmatics. Pharmacogenet. Genomics 15(7), 483-492 (2005). (Pubitemid 41017597)
31. Sanak M, Pierzchalska M, Bazan-Socha S, Szczeklik A. Enhanced expression of the leukotriene C(4) synthase due to overactive transcription of an allelic variant associated with aspirin-intolerant asthma. Am. J. Respir. Cell Mol. Biol. 23(3), 290-296 (2000).
32. Cornejo-Garcia JA, Jagemann LR, Blanca-Lopez N et al. Genetic variants of the arachidonic acid pathway in non-steroidal anti-inflammatory drug-induced acute urticaria. Clin. Exp. Allergy 42(12), 1772-1781 (2012).
33. Agundez JA, Ayuso P, Cornejo-Garcia JA et al. The diamine oxidase gene is associated with hypersensitivity response to non-steroidal anti-inflammatory drugs. PLoS ONE 7(11), e47571 (2012).
34. Kim JH, Park BL, Cheong HS et al. Genome-wide and follow-up studies identify CEP68 gene variants associated with risk of aspirin-intolerant asthma. PLoS ONE 5(11), e13818 (2010).
35. Park BL, Kim TH, Kim JH et al. Genome-wide association study of aspirin-exacerbated respiratory disease in a Korean population. Hum. Genet. 132(3), 313-321 (2013).
36. Blanca-Lopez N, J Torres M, Dona I et al. Value of the clinical history in the diagnosis of urticaria/angioedema induced by NSAIDs with cross-intolerance. Clin. Exp. Allergy 43(1), 85-91 (2013).
37. Han Y, Kaeser PS, Sudhof TC, Schneggenburger R. RIM determines Ca2+ channel density and vesicle docking at the presynaptic active zone. Neuron 69(2), 304-316 (2011).
38. Weiss N, Sandoval A, Kyonaka S, Felix R, Mori Y, De Waard M. Rim1 modulates direct G-protein regulation of Ca(v)2.2 channels. Pflugers Arch. Eur. J. Physiol. 461(4), 447-459 (2011).
39. Hui Y, Funk CD. Cysteinyl leukotriene receptors. Biochem. Pharmacol. 64(11), 1549-1557 (2002). (Pubitemid 35339376)
40. Thompson MD, Takasaki J, Capra V et al. G-protein-coupled receptors and asthma endophenotypes: the cysteinyl leukotriene system in perspective. Mol. Diagn. Ther. 10(6), 353-366 (2006). (Pubitemid 44927049)
41. Fujishima H, Sanchez Mejia RO, Bingham CO 3rd et al. Cytosolic phospholipase A2 is essential for both the immediate and the delayed phases of eicosanoid generation in mouse bone marrow-derived mast cells. Proc. Natl Acad. Sci. USA 96(9), 4803-4807 (1999). (Pubitemid 29214492)
42. Franco R, Pacheco R, Lluis C, Ahern GP, O'Connell PJ. The emergence of neurotransmitters as immune modulators. Trends Immunol. 28(9), 400-407 (2007). (Pubitemid 47385376)
43. Mikami N, Fukada S, Yamamoto H, Tsujikawa K. Neuronal derivative mediators that regulate cutaneous inflammations. Crit. Rev. Immunol. 32(4), 307-320 (2012).
44. Chabardes D, Imbert-Teboul M, Elalouf JM. Functional properties of Ca2+-inhibitable type 5 and type 6 adenylyl cyclases and role of Ca2+ increase in the inhibition of intracellular cAMP content. Cell. Signal. 11(9), 651-663 (1999). (Pubitemid 29381459)
45. Piazzon N, Maisonneuve C, Guilleret I, Rotman S, Constam DB. Bicc1 links the regulation of cAMP signaling in polycystic kidneys to microRNA-induced gene silencing. J. Mol. Cell Biol. 4(6), 398-408 (2012).
46. Wymann MP, Schneiter R. Lipid signalling in disease. Nat. Rev. Mol. Cell Biol. 9(2), 162-176 (2008). (Pubitemid 351158917)
47. Serra-Pages M, Olivera A, Torres R, Picado C, De Mora F, Rivera J. E-prostanoid 2 receptors dampen mast cell degranulation via cAMP/PKA-mediated suppression of IgE-dependent signaling. J. Leukoc. Biol. 92(6), 1155-1165 (2012).
48. Weston MC, Peachell PT. Regulation of human mast cell and basophil function by cAMP. Gen. Pharmacol. 31(5), 715-719 (1998). (Pubitemid 28520047)
49. Wakoh T, Uekawa N, Terauchi K et al. Implication of p53-dependent cellular senescence related gene, TARSH in tumor suppression. Biochem. Biophys. Res. Commun. 380(4), 807-812 (2009).
50. Kopp E, Ghosh S. Inhibition of NF-kappaB by sodium salicylate and aspirin. Science 265(5174), 956-959 (1994).
51. Stark LA, Din FV, Zwacka RM, Dunlop MG. Aspirin-induced activation of the NF-kappaB signaling pathway: a novel mechanism for aspirin-mediated apoptosis in colon cancer cells. FASEB J. 15(7), 1273-1275 (2001).
52. Alfonso LF, Srivenugopal KS, Arumugam TV, Abbruscato TJ, Weidanz JA, Bhat GJ. Aspirin inhibits camptothecin-induced p21CIP1 levels and potentiates apoptosis in human breast cancer cells. Int. J. Oncol. 34(3), 597-608 (2009).
53. Krejci L, Altmannova V, Spirek M, Zhao X. Homologous recombination and its regulation. Nucleic Acids Res. 40(13), 5795-5818 (2012).
54. Klein HL. The consequences of Rad51 overexpression for normal and tumor cells. DNA Repair 7(5), 686-693 (2008).
55. Fornander LH, Frykholm K, Reymer A, Renodon-Corniere A, Takahashi M, Norden B. Ca2+ improves organization of single-stranded DNA bases in human Rad51 filament, explaining stimulatory effect on gene recombination. Nucleic Acids Res. 40(11), 4904-4913 (2012).
56. Hirose K, Inukai T, Kikuchi J et al. Aberrant induction of LMO2 by the E2A-HLF chimeric transcription factor and its implication in leukemogenesis of B-precursor ALL with t(17;19). Blood 116(6), 962-970 (2010).
57. Gachon F, Olela FF, Schaad O, Descombes P, Schibler U. The circadian PAR-domain basic leucine zipper transcription factors DBP, TEF, and HLF modulate basal and inducible xenobiotic detoxification. Cell Metab. 4(1), 25-36 (2006). (Pubitemid 43942254)
58. Xie G, Wong CC, Cheng KW, Huang L, Constantinides PP, Rigas B. Regioselective oxidation of phospho-NSAIDs by human cytochrome P450 and flavin monooxygenase isoforms: implications for their pharmacokinetic properties and safety. Br. J. Pharmacol. 167(1), 222-232 (2012).
59. Zhu Y, Zhang QY. Role of intestinal cytochrome p450 enzymes in diclofenac-induced toxicity in the small intestine. J. Pharmacol. Exp. Ther. 343(2), 362-370 (2012).
60. Yang J, Dong H, Hammock BD. Profiling the regulatory lipids: another systemic way to unveil the biological mystery. Curr. Opin. Lipidol. 22(3), 197-203 (2011).
61. Matsuo N, Tanaka S, Gordon MK, Koch M, Yoshioka H, Ramirez F. CREB-AP1 protein complexes regulate transcription of the collagen XXIV gene (Col24a1) in osteoblasts. J. Biol. Chem. 281(9), 5445-5452 (2006). (Pubitemid 43847639)
62. Chiappara G, Chanez P, Bruno A et al. Variable p-CREB expression depicts different asthma phenotypes. Allergy 62(7), 787-794 (2007). (Pubitemid 46934376)
63. Agrawal B, Krantz MJ, Parker J, Longenecker BM. Expression of MUC1 mucin on activated human T cells: implications for a role of MUC1 in normal immune regulation. Cancer Res. 58(18), 4079-4081 (1998). (Pubitemid 28440559)
64. Cloosen S, Thio M, Vanclee A et al. Mucin-1 is expressed on dendritic cells, both in vitro and in vivo. Int. Immunol. 16(11), 1561-1571 (2004). (Pubitemid 39480775)
65. Leong CF, Raudhawati O, Cheong SK, Sivagengei K, Noor Hamidah H. Epithelial membrane antigen (EMA) or MUC1 expression in monocytes and monoblasts. Pathology 35(5), 422-427 (2003). (Pubitemid 37310984)
66. Wei X, Xu H, Kufe D. Human MUC1 oncoprotein regulates p53-responsive gene transcription in the genotoxic stress response. Cancer Cell 7(2), 167-178 (2005). (Pubitemid 40248342)
67. Rahn JJ, Shen Q, Mah BK, Hugh JC. MUC1 initiates a calcium signal after ligation by intercellular adhesion molecule-1. J. Biol. Chem. 279(28), 29386-29390 (2004). (Pubitemid 38915817)
68. Zhao J, Wei J, Mialki RK et al. F-box protein FBXL19-mediated ubiquitination and degradation of the receptor for IL-33 limits pulmonary inflammation. Nat. Immunol. 13(7), 651-658 (2012).
69. Cirulli ET, Goldstein DB. Uncovering the roles of rare variants in common disease through whole-genome sequencing. Nat. Rev. Genet. 11(6), 415-425 (2010).
70. Spencer C, Hechter E, Vukcevic D, Donnelly P. Quantifying the underestimation of relative risks from genome-wide association studies. PLoS Genet. 7(3), e1001337 (2011).
71. Park JH, Wacholder S, Gail MH et al. Estimation of effect size distribution from genome-wide association studies and implications for future discoveries. Nat. Genet. 42(7), 570-575 (2010).
72. Genomes Project C, Abecasis GR, Altshuler D et al. A map of human genome variation from population-scale sequencing. Nature 467(7319), 1061-1073 (2010).