KIF3A, a cilia structural gene on chromosome 5q31, and its polymorphisms show an association with aspirin hypersensitivity in asthma

Journal of Clinical Immunology

Volumn 31, Issue 1, 2011, Pages 112-121

  Kim, Jeong Hyun ^a   Cha, Ji Yeon ^b   Cheong, Hyun Sub ^c   Park, Jong Sook ^b   Jang, An Soo ^b   Uh, Soo Taek ^d   Kim, Mi Kyeong ^e   Choi, Inseon S ^f   Cho, Sang Heon ^g   Park, Byung Lae ^c   Bae, Joon Seol ^a   Park, Choon Sik ^b,d   Shin, Hyoung Doo ^a,c  

^a Sogang University   (South Korea)

^b Soonchunhyang University Bucheon Hospital   (South Korea)

^c SNP Genetics Inc   (South Korea)

^d Soonchunhyang University   (South Korea)

^e Chungbuk National University   (South Korea)

^f Chonnam National University Medical School   (South Korea)

^g Seoul National University College of Medicine   (South Korea)

Author keywords

Aspirin intolerant asthma; haplotype; KIF3A; single nucleotide polymorphism (SNP)

Indexed keywords

ACETYLSALICYLIC ACID; KINESIN; KINESIN 3A; MESSENGER RNA; UNCLASSIFIED DRUG;

ADULT; AGED; ALTERNATIVE RNA SPLICING; ARTICLE; ASPIRIN EXACERBATED RESPIRATORY DISEASE; BODY MASS; BRONCHOSPASM; BRONCHUS MUCOSA; CHROMOSOME 5Q; CONTROLLED STUDY; DNA POLYMORPHISM; EPITHELIUM CELL; EUKARYOTIC FLAGELLUM; FEMALE; FORCED EXPIRATORY FLOW; FORCED EXPIRATORY VOLUME; GENOTYPE; HAPLOTYPE; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HUMAN CELL; IMMUNOHISTOCHEMISTRY; INTRON; MAJOR CLINICAL STUDY; MALE; NOSE POLYP; PATHOGENESIS; PRIORITY JOURNAL; PROTEIN EXPRESSION; RISK FACTOR; SINGLE NUCLEOTIDE POLYMORPHISM; SKIN TEST; SMOKING;

ADULT; AGED; ASPIRIN; ASTHMA, ASPIRIN-INDUCED; BRONCHI; CHROMOSOMES, HUMAN, PAIR 5; CILIA; DRUG HYPERSENSITIVITY; EPITHELIAL CELLS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; KINESIN; MALE; MIDDLE AGED; POLYMORPHISM, SINGLE NUCLEOTIDE; REGRESSION ANALYSIS; YOUNG ADULT;

EID: 79953887781     PISSN: 02719142     EISSN: 15732592     Source Type: Journal    
DOI: 10.1007/s10875-010-9462-x     Document Type: Article

References (40)

1. Hedman J, Kaprio J, Poussa T, Nieminen MM. Prevalence of asthma, aspirin intolerance, nasal polyposis and chronic obstructive pulmonary disease in a population-based study. Int J Epidemiol. 1999;28:717-22. (Pubitemid 29401332)
2. Szczeklik A, Nizankowska E, Duplaga M. Natural history of aspirin-induced asthma. AIANE Investigators. European Network on Aspirin-Induced Asthma. Eur Respir J. 2000;16:432-6.
3. Widal F, Abrami P, Lermoyez J. Anaphylaxie et idiosyncrasie. 1992 [Anaphylaxis and idiosyncrasy. 1992]. Allergy Proc. 1993;14:373-6. discussion 371-372.
4. Babu KS, Salvi SS. Aspirin and asthma. Chest. 2000;118:1470-6.
5. Park JS, Jang AS, Park SW, et al. Protection of leukotriene receptor antagonist against aspirin-induced bronchospasm in asthmatics. Allergy Asthma Immunol Res. 2010;2:48-54.
6. Obase Y, Shimoda T, Tomari SY, et al. Effects of pranlukast on chemical mediators in induced sputum on provocation tests in atopic and aspirin-intolerant asthmatic patients. Chest. 2002;121:143-50. (Pubitemid 34114239)
7. Bush A, Cole P, Hariri M, et al. Primary ciliary dyskinesia: diagnosis and standards of care. Eur Respir J. 1998;12:982-8. (Pubitemid 28491678)
8. Shah AS, Farmen SL, Moninger TO, et al. Loss of Bardet-Biedl syndrome proteins alters the morphology and function of motile cilia in airway epithelia. Proc Natl Acad Sci U S A. 2008;105:3380-5. (Pubitemid 351723561)
9. Joki S, Saano V, Koskela T, Toskala E, Bray MA, Nuutinen J. Effect of leukotriene D4 on ciliary activity in human, guinea-pig and rat respiratory mucosa. Pulm Pharmacol. 1996;9:231-8.
10. Marszalek JR, Ruiz-Lozano P, Roberts E, Chien KR, Goldstein LS. Situs inversus and embryonic ciliary morphogenesis defects in mouse mutants lacking the KIF3A subunit of kinesin-II. Proc Natl Acad Sci U S A. 1999;96:5043-8. (Pubitemid 29214532)
11. Corbit KC, Shyer AE, Dowdle WE, et al. Kif3a constrains beta-catenin-dependent Wnt signalling through dual ciliary and nonciliary mechanisms. Nat Cell Biol. 2008;10:70-6.
12. Sivaprasad U, Gibson AM, Wang N, Khurana Hershey GK. Expression of cilia structural genes is downregulated in asthma and single nucleotide polymorphisms in these genes correlate with asthma. J Allergy Clin Immunol. 2009;123:S81.
13. Global Initiative for Asthma (GINA) Global strategy for asthma management and prevention. NHLB/WHO workshop report. Bethesda, MD: National Institutes of Health, National Heart, Lung, and Blood Institute, NIH publication; 1995. pp. 95-3659.
14. Ryu HJ, Jung HY, Park JS, et al. Gene-based single nucleotide polymorphisms and linkage disequilibrium patterns of 29 asthma candidate genes in the chromosome 5q31-33 region in Koreans. Int Arch Allergy Immunol. 2006;139:209-16.
15. Holloway JW, Lonjou C, Beghe B, et al. Linkage analysis of the 5q31-33 candidate region for asthma in 240 UK families. Genes Immun. 2001;2:20-4. (Pubitemid 33674865)
16. Hirota T, Suzuki Y, Hasegawa K, et al. Functional haplotypes of IL-12B are associated with childhood atopic asthma. J Allergy Clin Immunol. 2005;116:789-95. (Pubitemid 41400543)
17. Kim Y, Park CS, Shin HD, et al. A promoter nucleotide variant of the dendritic cell-specific DCNP1 associates with serum IgE levels specific for dust mite allergens among the Korean asthmatics. Genes Immun. 2007;8:369-78. (Pubitemid 47163100)
18. Shimokawa N, Nishiyama C, Hirota T, et al. Functional analysis of a polymorphism in the promoter region of the IL-12/23p40 gene. Clin Exp Allergy. 2009;39:228-35.
19. Kim TH, Chang HS, Park SM, et al. Association of angiotensin I-converting enzyme gene polymorphisms with aspirin intolerance in asthmatics. Clin Exp Allergy. 2008;38:1727-37.
20. Cormican LJ, Farooque S, Altmann DR, Lee TH. Improvements in an oral aspirin challenge protocol for the diagnosis of aspirin hypersensitivity. Clin Exp Allergy. 2005;35:717-22. (Pubitemid 40961342)
21. Barrett JC, Fry B, Maller J, Daly MJ. Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics. 2005;21:263-5. (Pubitemid 40202029)
22. Hedrick PW. Gametic disequilibrium measures: proceed with caution. Genetics. 1987;117:331-41.
23. Stephens M, Smith NJ, Donnelly P. A new statistical method for haplotype reconstruction from population data. Am J Hum Genet. 2001;68:978-89. (Pubitemid 32289743)
24. Eliasson R, Mossberg B, Camner P, Afzelius BA. The immotilecilia syndrome. A congenital ciliary abnormality as an etiologic factor in chronic airway infections and male sterility. N Engl J Med. 1977;297:1-6. (Pubitemid 8114593)
25. Bisgrove BW, Yost HJ. The roles of cilia in developmental disorders and disease. Development. 2006;133:4131-43. (Pubitemid 44830657)
26. Fliegauf M, Olbrich H, Horvath J, et al. Mislocalization of DNAH5 and DNAH9 in respiratory cells from patients with primary ciliary dyskinesia. Am J Respir Crit Care Med. 2005;171:1343-9. (Pubitemid 40800505)
27. Szczeklik A, Stevenson DD. Aspirin-induced asthma: advances in pathogenesis, diagnosis, and management. J Allergy Clin Immunol. 2003;111:913-21. quiz 922.
28. Kauppi P, Lindblad-Toh K, Sevon P, et al. A second-generation association study of the 5q31 cytokine gene cluster and the interleukin-4 receptor in asthma. Genomics. 2001;77:35-42. (Pubitemid 32826483)
29. Donfack J, Schneider DH, Tan Z, et al. Variation in conserved non-coding sequences on chromosome 5q and susceptibility to asthma and atopy. Respir Res. 2005;6:145.
30. Koppelman GH, Meyers DA, Howard TD, et al. Identification of PCDH1 as a novel susceptibility gene for bronchial hyper-responsiveness. Am J Respir Crit Care Med. 2009;180:929-35.
31. Ridruechai C, Mahasirimongkol S, Phromjai J, et al. Association analysis of susceptibility candidate region on chromosome 5q31 for tuberculosis. Genes Immun. 2010;11:416-22.
32. Slatkin M. Linkage disequilibrium - understanding the evolutionary past and mapping the medical future. Nat Rev Genet. 2008;9:477-85. (Pubitemid 351693977)
33. Basehore MJ, Howard TD, Lange LA, et al. A comprehensive evaluation of IL4 variants in ethnically diverse populations: association of total serum IgE levels and asthma in white subjects. J Allergy Clin Immunol. 2004;114:80-7. (Pubitemid 39005121)
34. Haller G, Torgerson DG, Ober C, Thompson EE. Sequencing the IL4 locus in African Americans implicates rare noncoding variants in asthma susceptibility. J Allergy Clin Immunol. 2009;124:1204-9.e1209.
35. Devouassoux G, Foster B, Scott LM, Metcalfe DD, Prussin C. Frequency and characterization of antigen-specific IL-4- and IL-13- producing basophils and T cells in peripheral blood of healthy and asthmatic subjects. J Allergy Clin Immunol. 1999;104:811-9. (Pubitemid 30249302)
36. Gamboa P, Sanz ML, Caballero MR, et al. The flow-cytometric determination of basophil activation induced by aspirin and other non-steroidal anti-inflammatory drugs (NSAIDs) is useful for in vitro diagnosis of the NSAID hypersensitivity syndrome. Clin Exp Allergy. 2004;34:1448-57. (Pubitemid 39233702)
37. Steinke JW, Culp JA, Kropf E, Borish L. Modulation by aspirin of nuclear phospho-signal transducer and activator of transcription 6 expression: Possible role in therapeutic benefit associated with aspirin desensitization. J Allergy Clin Immunol. 2009;124:724-30.e724.
38. Picado C, Bioque G, Roca-Ferrer J, et al. Nuclear factor-kappaB activity is down-regulated in nasal polyps from aspirin-sensitive asthmatics. Allergy. 2003;58:122-6. (Pubitemid 36359831)
39. Amit S, Ben-Neriah Y. NF-kappaB activation in cancer: a challenge for ubiquitination- and proteasome-based therapeutic approach. Semin Cancer Biol. 2003;13:15-28. (Pubitemid 36269177)
40. Stamm S, Riethoven JJ, Le Texier V, et al. ASD: a bioinformatics resource on alternative splicing. Nucleic Acids Res. 2006;34:D46-55.