Asthma-associated polymorphisms in 17q21 influence cord blood ORMDL3 and GSDMA gene expression and IL-17 secretion

Journal of Allergy and Clinical Immunology

Volumn 127, Issue 6, 2011, Pages

  Lluis, Anna ^a   Schedel, Michaela ^b   Liu, Jing ^a,c   Illi, Sabina ^a   Depner, Martin ^a   Von Mutius, Erika ^a   Kabesch, Michael ^b   Schaub, Bianca ^a  

^a LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^b HANNOVER MEDICAL SCHOOL   (Germany)

^c THE SECOND HOSPITAL OF JILIN UNIVERSITY   (China)

Author keywords

Chromosome 17q21 locus; cord blood; cytokines; GSDMA; IL 17; ORMDL3; polymorphism; T cells

Indexed keywords

ALLERGEN; BINDING PROTEIN; FORKHEAD TRANSCRIPTION FACTOR; GAMMA INTERFERON; GASDERMIN A; GASDERMIN B; IKAROS TRANSCRIPTION FACTOR; INTERLEUKIN 13; INTERLEUKIN 17; INTERLEUKIN 5; LIPID A; MESSENGER RNA; OROSOMUCOID; OROSOMUCOID 1 LIKE 3; PHYTOHEMAGGLUTININ; PLASMA PROTEIN; PROTEASOME; PROTEASOME 26S SUBUNIT NON ATPASE 3; UNCLASSIFIED DRUG; ZONA PELLUCIDA BINDING PROTEIN 2;

ARTICLE; ASTHMA; CELL LINEAGE; CHILDHOOD DISEASE; CHROMOSOME 17Q; CONTROLLED STUDY; CORD BLOOD MONONUCLEAR CELL; CYTOKINE RELEASE; DISEASE ASSOCIATION; FETUS; GENE EXPRESSION; GENE LOCUS; GENETIC RISK; GENETIC VARIABILITY; GENOTYPE; HETEROZYGOTE; HOMOZYGOTE; HUMAN; HUMAN CELL; MATRIX ASSISTED LASER DESORPTION IONIZATION TIME OF FLIGHT MASS SPECTROMETRY; MONONUCLEAR CELL; PERIPHERAL BLOOD MONONUCLEAR CELL; PRIORITY JOURNAL; REAL TIME POLYMERASE CHAIN REACTION; REGULATORY T LYMPHOCYTE; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RISK ASSESSMENT; SINGLE NUCLEOTIDE POLYMORPHISM; T LYMPHOCYTE SUBPOPULATION;

EID: 79957835071     PISSN: 00916749     EISSN: 10976825     Source Type: Journal    
DOI: 10.1016/j.jaci.2011.03.015     Document Type: Article

References (26)

1. Moffatt MF, Kabesch M, Liang L, Dixon AL, Strachan D, Heath S, et al. Genetic variants regulating ORMDL3 expression contribute to the risk of childhood asthma. Nature 2007;448:470-3. (Pubitemid 47123521)
2. Bisgaard H, Bonnelykke K, Sleiman PM, Brasholt M, Chawes B, Kreiner-Moller E, et al. Chromosome 17q21 gene variants are associated with asthma and exacerbations but not atopy in early childhood. Am J Respir Crit Care Med 2009;179: 179-85.
3. Bouzigon E, Corda E, Aschard H, Dizier MH, Boland A, Bousquet J, et al. Effect of 17q21 variants and smoking exposure in early-onset asthma. N Engl J Med 2008;359:1985-94.
4. Galanter J, Choudhry S, Eng C, Nazario S, Rodriguez-Santana JR, Casal J, et al. ORMDL3 gene is associated with asthma in three ethnically diverse populations. Am J Respir Crit Care Med 2008;177:1194-200. (Pubitemid 351860927)
5. Hirota T, Harada M, Sakashita M, Doi S, Miyatake A, Fujita K, et al. Genetic polymorphism regulating ORM1-like 3 (Saccharomyces cerevisiae) expression is associated with childhood atopic asthma in a Japanese population. J Allergy Clin Immunol 2008;121:769-70.
6. Leung TF, Sy HY, Ng MC, Chan IH, Wong GW, Tang NL, et al. Asthma and atopy are associated with chromosome 17q21 markers in Chinese children. Allergy 2009; 64:621-8.
7. Madore AM, Tremblay K, Hudson TJ, Laprise C. Replication of an association between 17q21 SNPs and asthma in a French-Canadian familial collection. Hum Genet 2008;123:93-5.
8. Sleiman PM, Annaiah K, Imielinski M, Bradfield JP, Kim CE, Frackelton EC, et al. ORMDL3 variants associated with asthma susceptibility in North Americans of European ancestry. J Allergy Clin Immunol 2008;122:1225-7.
9. 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;121:860-3. (Pubitemid 351471721)
10. Verlaan DJ, Berlivet S, Hunninghake GM, Madore AM, Lariviere M, Moussette S, et al. Allele-specific chromatin remodeling in the ZPBP2/GSDMB/ORMDL3 locus associated with the risk of asthma and autoimmune disease. Am J Hum Genet 2009;85:377-93.
11. 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;64:629-35.
12. Dixon AL, Liang L, Moffatt MF, Chen W, Heath S, Wong KC, et al. A genome-wide association study of global gene expression. Nat Genet 2007;39:1202-7. (Pubitemid 47482680)
13. Verlaan DJ, Ge B, Grundberg E, Hoberman R, Lam KC, Koka V, et al. Targeted screening of cis-regulatory variation in human haplotypes. Genome Res 2009;19: 118-27.
14. Hjelmqvist L, Tuson M, Marfany G, Herrero E, Balcells S, Gonzalez-Duarte R. ORMDL proteins are a conserved new family of endoplasmic reticulum membrane proteins. Genome Biol 2002;3:RESEARCH0027.
15. 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;19:111-21.
16. Schaub B, Liu J, Hoppler S, Schleich I, Huehn J, Olek S, et al. Maternal farm exposure modulates neonatal immune mechanisms through regulatory T cells. J Allergy Clin Immunol 2009;123:774-82, e5.
17. Schaub B, Liu J, Hoppler S, Haug S, Sattler C, Lluis A, et al. Impairment of T-regulatory cells in cord blood of atopic mothers. J Allergy Clin Immunol 2008;121: 1491-9, 9 e1-13.
18. Moffatt MF, Gut IG, Demenais F, Strachan DP, Bouzigon E, Heath S, et al. A large-scale, consortium-based genomewide association study of asthma. N Engl J Med 2010;23(363):1211-21.
19. Halapi E, Gudbjartsson DF, Jonsdottir GM, Bjornsdottir US, Thorleifsson G, Helgadottir H, et al. A sequence variant on 17q21 is associated with age at onset and severity of asthma. Eur J Hum Genet 2010;18:902-8, Epub 2010 Apr 7.
20. Schaub B, Liu J, Schleich I, Hoppler S, Sattler C, von Mutius E. Impairment of T helper and T regulatory cell responses at birth. Allergy 2008;63:1438-47.
21. Ding C, Cantor CR. A high-throughput gene expression analysis technique using competitive PCR and matrix-assisted laser desorption ionization time-of-flight MS. Proc Natl Acad Sci U S A 2003;100:3059-64. (Pubitemid 36356539)
22. Weaver CT, Harrington LE, Mangan PR, Gavrieli M, Murphy KM. Th17: an effector CD4 T cell lineage with regulatory T cell ties. Immunity 2006;24:677-88. (Pubitemid 43867371)
23. Ivanov S, Bozinovski S, Bossios A, Valadi H, Vlahos R, Malmhall C, et al. Functional relevance of the IL-23-IL-17 axis in lungs in vivo. Am J Respir Cell Mol Biol 2007;36:442-51. (Pubitemid 46623002)
24. Gallo EM, Cante-Barrett K, Crabtree GR. Lymphocyte calcium signaling from membrane to nucleus. Nat Immunol 2006;7:25-32. (Pubitemid 41823865)
25. Lewis RS. Calcium signaling mechanisms in T lymphocytes. Annu Rev Immunol 2001;19:497-521. (Pubitemid 32368044)
26. Breslow DK, Collins SR, Bodenmiller B, Aebersold R, Simons K, Shevchenko A, et al. Orm family proteins mediate sphingolipid homeostasis. Nature 2010;463:1028-9.