Polymorphisms in GSDMA and GSDMB are associated with asthma susceptibility, atopy and BHR

Pediatric Pulmonology

Volumn 46, Issue 7, 2011, Pages 701-708

  Yu, Jinho ^a   Kang, Mi Jin ^b   Kim, Byoung Ju ^c   Kwon, Ji Won ^a   Song, Young Hwa ^a   Choi, Won Ah ^b   Shin, Yee Jin ^d   Hong, Soo Jong ^a  

^a University of Ulsan College of Medicine   (South Korea)

^b University of Ulsan   (South Korea)

^c Inje University   (South Korea)

^d Yonsei University College of Medicine   (South Korea)

Author keywords

Asthma; Bronchial hyperresponsiveness; GSDMA; GSDMB; IgE

Indexed keywords

IMMUNOGLOBULIN E;

ALLERGIC ASTHMA; ARTICLE; ASTHMA; BRONCHUS HYPERREACTIVITY; CHILD; FEMALE; GASDERMIN A GENE; GASDERMIN B GENE; GENE; GENE FREQUENCY; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; GENOTYPE; HUMAN; IMMUNOGLOBULIN BLOOD LEVEL; KOREA; MAJOR CLINICAL STUDY; MALE; PHENOTYPE; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM;

ASTHMA; CASE-CONTROL STUDIES; CHILD; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HAPLOTYPES; HUMANS; HYPERSENSITIVITY, IMMEDIATE; IMMUNOGLOBULIN E; MALE; NEOPLASM PROTEINS; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; REPUBLIC OF KOREA; RESPIRATORY HYPERSENSITIVITY;

EID: 79959815406     PISSN: 87556863     EISSN: 10990496     Source Type: Journal    
DOI: 10.1002/ppul.21424     Document Type: Article

References (22)

1. Cookson W. The immunogenetics of asthma and eczema: A new focus on the epithelium. Nat Rev Immunol 2004;4:978-988. (Pubitemid 39620072)
2. Ober C, Hoffjan S. Asthma genetics 2006: The long and winding road to gene discovery. Genes Immun 2006;7:95-100.
3. Moffatt MF, Kabesch M, Liang L, Dixon AL, Strachan D, Heath S, Depner M, von Berg A, Bufe A, Rietschel E, Heinzmann A, Simma B, Frischer T, Willis-Owen SA, Wong KC, Illig T, Vogelberg C, Weiland SK, von Mutius E, Abecasis GR, Farrall M, Gut IG, Lathrop GM, Cookson WO. Genetic variants regulating ORMDL3 expression contribute to the risk of childhood asthma. Nature 2007;448:470-473.
4. Bouzigon E, Corda E, Aschard H, Dizier MH, Boland A, Bousquet J, Chateigner N, Gormand F, Just J, Le Moual N, Scheinmann P, Siroux V, Vervloet D, Zelenika D, Pin I, Kauffmann F, Lathrop M, Demenais F. Effect of 17q21 variants and smoking exposure in early-onset asthma. N Engl J Med 2008;359:1985-1994.
5. Leung TF, Sy HY, Ng MC, Chan IH, Wong GW, Tang NL, Waye MM, Lam CW. Asthma and atopy are associated with chromosome 17q21 markers in Chinese children. Allergy 2009;64:621-628.
6. Galanter J, Choudhry S, Eng C, Nazario S, Rodríguez-Santana JR, Casal J, Torres-Palacios A, Salas J, Chapela R, Watson HG, Meade K, LeNoir M, Rodríguez-Cintrón W, Avila PC, Burchard EG. ORMDL3 gene is associated with asthma in three ethnically diverse populations. Am J Respir Crit Care Med 2008;177:1194-1200. (Pubitemid 351860927)
7. Hirota T, Harada M, Sakashita M, Doi S, Miyatake A, Fujita K, Enomoto T, Ebisawa M, Yoshihara S, Noguchi E, Saito H, Nakamura Y, Tamari M. Genetic polymorphism regulating ORM1-like 3 (Saccharomyces cerevisiae) expression is associated with childhood atopic asthma in a Japanese population. J Allergy Clin Immunol 2008;121:769-770.
8. Tavendale R, Macgregor DF, Mukhopadhyay S, Palmer CN. A polymorphism controlling ORMDL3 expression is associated with asthma that is poorly controlled by current medications. J Allergy Clin Immunol 2008;121:860-863. (Pubitemid 351471721)
9. Wu H, Romieu I, Sienra-Monge JJ, Li H, del Rio-Navarro BE, London SJ. Genetic variation in ORM1-like 3 (ORMDL3) and gasdermin-like (GSDML) and childhood asthma. Allergy 2009;64:629-635.
10. Sleiman PM, Annaiah K, Imielinski M, Bradfield JP, Kim CE, Frackelton EC, Glessner JT, Eckert AW, Otieno FG, Santa E, Thomas K, Smith RM, Glaberson W, Garris M, Gunnlaugsson S, Chiavacci RM, Allen J, Spergel J, Grundmeier R, Grunstein MM, Magnusson M, Bisgaard H, Grant SF, Hakonarson H. ORMDL3 variants associated with asthma susceptibility in North Americans of European ancestry. J Allergy Clin Immunol 2008;122:1225-1227.
11. Halapi E, Gudbjartsson DF, Jonsdottir GM, Bjornsdottir US, Thorleifsson G, Helgadottir H, Williams C, Koppelman GH, Heinzmann A, Boezen HM, Jonasdottir A, Blondal T, Gudjonsson SA, Jonasdottir A, Thorlacius T, Henry AP, Altmueller J, Krueger M, Shin HD, Uh ST, Cheong HS, Jonsdottir B, Ludviksson BR, Ludviksdottir D, Gislason D, Park CS, Deichmann K, Thompson PJ, Wjst M, Hall IP, Postma DS, Gislason T, Kong A, Jonsdottir I, Thorsteinsdottir U, Stefansson K. A sequence variant on 17q21 is associated with age at onset and severity of asthma. Eur J Hum Genet 2010;18:902-908.
12. Tamura M, Tanaka S, Fujii T, Aoki A, Komiyama H, Ezawa K, Sumiyama K, Sagai T, Shiroishi T. Members of a novel gene family, Gsdm, are expressed exclusively in the epithelium of the skin and gastrointestinal tract in a highly tissue-specific manner. Genomics 2007;89:618-629. (Pubitemid 46604751)
13. Lunny DP, Weed E, Nolan PM, Marquardt A, Augustin M, Porter RM. Mutations in gasdermin 3 cause aberrant differentiation of the hair follicle and sebaceous gland. J Invest Dermatol 2005;124:615-621. (Pubitemid 40381585)
14. Saeki N, Kim DH, Usui T, Aoyagi K, Tatsuta T, Aoki K, Yanagihara K, Tamura M, Mizushima H, Sakamoto H, Ogawa K, Ohki M, Shiroishi T, Yoshida T, Sasaki H. GASDERMIN, suppressed frequently in gastric cancer, is a target of LMO1 in TGFbeta-dependent apoptotic signalling. Oncogene 2007;26:6488-6498. (Pubitemid 47530599)
15. Saeki N, Usui T, Aoyagi K, Kim DH, Sato M, Mabuchi T, Yanagihara K, Ogawa K, Sakamoto H, Yoshida T, Sasaki H. Distinctive expression and function of four GSDM family genes (GSDMA-D) in normal and malignant upper gastrointestinal epithelium. Genes Chromosomes Cancer 2009;48:261-271.
16. Standards for the diagnosis and care of patients with chronic obstructive pulmonary disease (COPD) and asthma. This official statement of the American Thoracic Society was adopted by the ATS Board of Directors, November 1986. Am Rev Respir Dis 1987;136:225-244.
17. Lee SG, Kim BS, Kim JH, Lee SY, Choi SO, Shim JY, Hong TJ, Hong SJ. Gene-gene interaction between interleukin-4 and interleukin-4 receptor alpha in Korean children with asthma. Clin Exp Allergy 2004;34:1202-1208.
18. Chai H, Farr RS, Froehlich LA, Mathison DA, McLean JA, Rosenthal RR, Sheffer AL, Spector SL, Townley RG. Standardization of bronchial inhalation challenge procedures. J Allergy Clin Immunol 1975;56:323-327.
19. Sears MR, Burrows B, Flannery EM, Herbison GP, Hewitt CJ, Holdaway MD. Relation between airway responsiveness and serum IgE in children with asthma and in apparently normal children. N Engl J Med 1991;325:1067-1071.
20. Verlaan DJ, Berlivet S, Hunninghake GM, Madore AM, Larivière M, Moussette S, Grundberg E, Kwan T, Ouimet M, Ge B, Hoberman R, Swiatek M, Dias J, Lam KC, Koka V, Harmsen E, Soto-Quiros M, Avila L, Celedón JC, Weiss ST, Dewar K, Sinnett D, Laprise C, Raby BA, Pastinen T, Naumova AK. Allele-specific chromatin remodeling in the ZPBP2/GSDMB/ORMDL3 locus associated with the risk of asthma and autoimmune disease. Am J Hum Genet 1999;85:377-393.
21. Cantero-Recasens G, Fandos C, Rubio-Moscardo F, Valverde MA, Vicente R. The asthma-associated ORMDL3 gene product regulates endoplasmic reticulum-mediated calcium signaling and cellular stress. Hum Mol Genet 2010;19:111-121.
22. Breslow DK, Collins SR, Bodenmiller B, Aebersold R, Simons K, Shevchenko A, Ejsing CS, Weissman JS. Orm family proteins mediate sphingolipid homeostasis. Nature 2010;463:1048-1053.