Genetic heterogeneity of asthma phenotypes identified by a clustering approach

European Respiratory Journal

Volumn 43, Issue 2, 2014, Pages 439-452

  Siroux, Valérie ^a,b   González, Juan R ^c,d,e   Bouzigon, Emmanuelle ^a,f   Curjuric, Ivan ^g,h   Boudier, Anne ^a,b   Imboden, Medea ^g,h   Anto, Josep Maria ^c,e,i,j   Gut, Ivo ^k,l   Jarvis, Deborah ^m   Lathrop, Mark ^f,k   Omenaas, Ernst Reidar ^n,o   Pin, Isabelle ^a,b,p   Wjst, Mathias ^q,r   Demenais, Florence ^a,f   Probst Hensch, Nicole ^g,h   Kogevinas, Manolis ^c,e,j,s   Kauffmann, Francine ^t  

^a INSERM   (France)

^b UNIV GRENOBLE ALPES   (France)

^c CENTRE FOR RESEARCH IN ENVIRONMENTAL EPIDEMIOLOGY CREAL   (Spain)

^d UNIVERSITAT AUTÒNOMA DE BARCELONA   (Spain)

^e CIBER EPIDEMIOLOGÍA Y SALUD PÚBLICA CIBERESP   (Spain)

^f UNIVERSITÉ PARIS DIDEROT   (France)

^g SWISS TROPICAL AND PUBLIC HEALTH INSTITUTE   (Switzerland)

^h UNIVERSITY OF BASEL   (Switzerland)

ⁱ UNIVERSITAT POMPEU FABRA   (Spain)

^j HOSPITAL DEL MAR   (Spain)

^k CENTRE NATIONAL DE GÉNOTYPAGE   (France)

^l Centro Nacional de Analisis Genomico   (Spain)

^m Faculty of Medicine and MRC Health Protection Agency   (United Kingdom)

ⁿ UNIVERSITY OF BERGEN   (Norway)

^o HAUKELAND UNIVERSITY HOSPITAL   (Norway)

^p GRENOBLE UNIVERSITY HOSPITAL   (France)

^q INSTITUTE OF EPIDEMIOLOGY   (Germany)

^r TECHNICAL UNIVERSITY OF MUNICH   (Germany)

^s NATIONAL SCHOOL OF PUBLIC HEALTH   (Greece)

^t CENTRE FOR RESEARCH IN EPIDEMIOLOGY AND POPULATION HEALTH   (France)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ASTHMA; CLUSTER ANALYSIS; COHORT STUDIES; FEMALE; FOLLOW-UP STUDIES; FRANCE; GENETIC HETEROGENEITY; GENETIC VARIATION; GENOME-WIDE ASSOCIATION STUDY; GENOTYPE; HUMANS; MALE; MIDDLE AGED; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; REPRODUCIBILITY OF RESULTS; SWITZERLAND;

EID: 84893454185     PISSN: 09031936     EISSN: 13993003     Source Type: Journal    
DOI: 10.1183/09031936.00032713     Document Type: Article

References (35)

1. Moffatt MF, Gut IG, Demenais F, et al. A large-scale, consortium-based genomewide association study of asthma. N Engl J Med 2010; 363: 1211-1221.
2. Torgerson DG, Ampleford EJ, Chiu GY, et al. Meta-analysis of genome-wide association studies of asthma in ethnically diverse North American populations. Nat Genet 2011; 43: 887-892.
3. Manolio TA, Collins FS, Cox NJ, et al. Finding the missing heritability of complex diseases. Nature 2009; 461: 747-753.
4. Wjst M, Sargurupremraj M, Arnold M. Genome-wide association studies in asthma: what they really told us about pathogenesis. Curr Opin Allergy Clin Immunol 2013; 13: 112-118.
5. Wenzel SE. Asthma phenotypes: the evolution from clinical to molecular approaches. Nat Med 2012; 18: 716-725.
6. Bouzigon E, Corda E, Aschard H, et al. Effect of 17q21 variants and smoking exposure in early-onset asthma. N Engl J Med 2008; 359: 1985-1994.
7. Siroux V, Garcia-Aymerich J. The investigation of asthma phenotypes. Curr Opin Allergy Clin Immunol 2011; 11: 393-399.
8. Moore WC, Meyers DA, Wenzel SE, et al. Identification of asthma phenotypes using cluster analysis in the Severe Asthma Research Program. Am J Respir Crit Care Med 2010; 181: 315-323.
9. Haldar P, Pavord ID, Shaw DE, et al. Cluster analysis and clinical asthma phenotypes. Am J Respir Crit Care Med 2008; 178: 218-224.
10. Siroux V, Basagaña X, Boudier A, et al. Identifying adult asthma phenotypes using a clustering approach. Eur Respir J 2011; 38: 310-317.
11. The European Community Respiratory Health Survey II Steering Committee. The European Community Respiratory Health Survey II. Eur Respir J 2002; 20: 1071-1079.
12. Ackermann-Liebrich U, Kuna-Dibbert B, Probst-Hensch NM, et al. Follow-up of the Swiss Cohort Study on Air Pollution and Lung Diseases in Adults (SAPALDIA 2) 1991-2003: methods and characterization of participants. Soz Praventivmed 2005; 50: 245-263.
13. Kauffmann F, Dizier MH, Pin I, et al. Epidemiological study of the genetics and environment of asthma, bronchial hyperresponsiveness, and atopy: phenotype issues. Am J Respir Crit Care Med 1997; 156: S123-S129.
14. Imboden M, Bouzigon E, Curjuric I, et al. Genome-wide association study of lung function decline in adults with and without asthma. J Allergy Clin Immunol 2012; 129: 1218-1228.
15. Moffatt MF, Kabesch M, Liang L, et al. Genetic variants regulating ORMDL3 expression contribute to the risk of childhood asthma. Nature 2007; 448: 470-473.
16. Sleiman PM, Flory J, Imielinski M, et al. Variants of DENND1B associated with asthma in children. N Engl J Med 2010; 362: 36-44.
17. Li X, Howard TD, Zheng SL, et al. Genome-wide association study of asthma identifies RAD50-IL13 and HLA-DR/ DQ regions. J Allergy Clin Immunol 2010; 125: 328-335.
18. Gudbjartsson DF, Bjornsdottir US, Halapi E, et al. Sequence variants affecting eosinophil numbers associate with asthma and myocardial infarction. Nat Genet 2009; 41: 342-347.
19. Himes BE, Hunninghake GM, Baurley JW, et al. Genome-wide association analysis identifies PDE4D as an asthmasusceptibility gene. Am J Hum Genet 2009; 84: 581-593.
20. Mathias RA, Grant AV, Rafaels N, et al. A genome-wide association study on African-ancestry populations for asthma. J Allergy Clin Immunol 2009; 125: 336-346.
21. Hancock DB, Romieu I, Shi M, et al. Genome-wide association study implicates chromosome 9q21.31 as a susceptibility locus for asthma in Mexican children. PLoS Genet 2009; 5: e1000623.
22. Noguchi E, Sakamoto H, Hirota T, et al. Genome-wide association study identifies HLA-DP as a susceptibility gene for pediatric asthma in Asian populations. PLoS Genet 2011; 7: e1002170.
23. Ober C, Cox NJ, Abney M, et al. Genome-wide search for asthma susceptibility loci in a founder population. The Collaborative Study on the Genetics of Asthma. Hum Mol Genet 1998; 7: 1393-1398.
24. Ferreira MAR, Matheson MC, Duffy DL, et al. Identification of IL6R and chromosome 11q13.5 as risk loci for asthma. Lancet 2011; 378: 1006-1014.
25. Johnson AD, Handsaker RE, Pulit SL, et al. SNAP: a web-based tool for identification and annotation of proxy SNPs using HapMap. Bioinformatics 2008; 24: 2938-2939.
26. Li MX, Yeung JM, Cherny SS, et al. Evaluating the effective numbers of independent tests and significant p-value thresholds in commercial genotyping arrays and public imputation reference datasets. Hum Genet 2012; 131: 747-756.
27. Morris AP, Lindgren CM, Zeggini E, et al. A powerful approach to sub-phenotype analysis in population-based genetic association studies. Genet Epidemiol 2010; 34: 335-343.
28. Ege MJ, Strachan DP, Cookson WO, et al. Gene-environment interaction for childhood asthma and exposure to farming in Central Europe. J Allergy Clin Immunol 2011; 127: 138-144.
29. Ober C, Tan Z, Sun Y, et al. Effect of variation in CHI3L1 on serum YKL-40 level, risk of asthma, and lung function. N Engl J Med 2008; 358: 1682-1691.
30. Bennett SN, Caporaso N, Fitzpatrick AL, et al. Phenotype harmonization and cross-study collaboration in GWAS consortia: the GENEVA experience. Genet Epidemiol 2011; 35: 159-173.
31. Weidle UH, Eggle D, Klostermann S, et al. ALCAM/CD166: cancer-related issues. Cancer Genomics Proteomics 2010; 7: 231-243.
32. Eleftherohorinou H, Wright V, Hoggart C, et al. Pathway analysis of GWAS provides new insights into genetic susceptibility to 3 inflammatory diseases. PLoS One 2009; 4: e8068.
33. Miccichè F, Da Riva L, Fabbi M, et al. Activated leukocyte cell adhesion molecule expression and shedding in thyroid tumors. PLoS One 2011; 6: e17141.
34. Murthy A, Shao YW, Narala SR, et al. Notch activation by the metalloproteinase ADAM17 regulates myeloproliferation and atopic barrier immunity by suppressing epithelial cytokine synthesis. Immunity 2012; 36: 105-119.
35. Lei SF, Tan LJ, Liu XG, et al. Genome-wide association study identifies two novel loci containing FLNB and SBF2 genes underlying stature variation. Hum Mol Genet 2009; 18: 1661-1669.