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3 results on '"Bouzigon, E. (Emmanuelle)"'

1. Association of Forced Vital Capacity with the Developmental Gene NCOR2

Author

Minelli, C. (Cosetta), Dean, C. H. (Charlotte H.), Hind, M. (Matthew), Alves, A. C. (Alexessander Couto), Amaral, A. F. (André F. S.), Siroux, V. (Valerie), Huikari, V. (Ville), Soler Artigas, M. (María), Evans, D. M. (David M.), Loth, D. W. (Daan W.), Bossé, Y. (Yohan), Postma, D. S. (Dirkje S.), Sin, D. (Don), Thompson, J. (John), Demenais, F. (Florence), Henderson, J. (John), S. c. (SpiroMeta consortium), C. c. (CHARGE consortium), Bouzigon, E. (Emmanuelle), Jarvis, D. (Deborah), Järvelin, M.-R. (Marjo-Riitta), Burney, P. (Peter), School of Medicine / Public Health, and Latzin, Philipp

Subjects
Adult, Male, General Science & Technology, CHARGE consortium, Organogenesis, Quantitative Trait Loci, lcsh:Medicine, Young Adult, Clinical Research, Forced Expiratory Volume, Genetics, 2.1 Biological and endogenous factors, Humans, SpiroMeta consortium, Developmental, Nuclear Receptor Co-Repressor 2, Aetiology, Polymorphism, lcsh:Science, Lung, Genetic Association Studies, Aged, Gene Expression Profiling, lcsh:R, Single Nucleotide, Middle Aged, Genes, Respiratory, lcsh:Q, Female, Genome-Wide Association Study
Abstract

Article, Background Forced Vital Capacity (FVC) is an important predictor of all-cause mortality in the absence of chronic respiratory conditions. Epidemiological evidence highlights the role of early life factors on adult FVC, pointing to environmental exposures and genes affecting lung development as risk factors for low FVC later in life. Although highly heritable, a small number of genes have been found associated with FVC, and we aimed at identifying further genetic variants by focusing on lung development genes. Methods Per-allele effects of 24,728 SNPs in 403 genes involved in lung development were tested in 7,749 adults from three studies (NFBC1966, ECRHS, EGEA). The most significant SNP for the top 25 genes was followed-up in 46,103 adults (CHARGE and SpiroMeta consortia) and 5,062 children (ALSPAC). Associations were considered replicated if the replication p-value survived Bonferroni correction (p, published version, peerReviewed

Published
2016

2. Meta-analysis identifies seven susceptibility loci involved in the atopic March

Author

Marenholz, I. (Ingo), Esparza-Gordillo, J. (Jorge), Rüschendorf, F. (Franz), Bauerfeind, A. (Anja), Strachan, D.P. (David P.), Spycher, B.D. (Ben D.), Baurecht, H. (Hansjörg), Margaritte-Jeannin, P. (Patricia), Sääf, A. (Annika), Kerkhof, M. (Marjan), Ege, M. (Markus), Baltic, S. (Svetlana), Matheson, J., Li, J. (Jin), Michel, S. (Sven), Ang, W.Q. (Wei Q.), McArdle, W.L. (Wendy), Homuth, G. (Georg), Demenais, F. (Florence), Bouzigon, E. (Emmanuelle), Söderhäll, C. (Cilla), Pershagen, G. (Göran), Jongste, J.C. (Johan) de, Postma, D.S. (Dirkje), Braun-Fahrländer, C. (Charlotte), Horak, E. (Elisabeth), Ogorodova, L.M. (Ludmila M.), Puzyrev, V.P. (Valery P.), Bragina, E.Y. (Elena Yu), Hudson, T.J. (Thomas), Morin, C. (Charles), Duffy, D.L. (David), Marks, G.B. (Guy B.), Robertson, C., Montgomery, G.W. (Grant), Musk, A.W. (Arthur), Thompson, P.J. (Philip), Martin, N.G. (Nicholas), James, A.L. (Alan), Sleiman, P.M.A. (Patrick), Toskala, E. (Elina), Rodríguez, P.M., Fölster-Holst, R. (R.), Franke, A. (Andre), Lieb, W. (Wolfgang), Gieger, C. (Christian), Heinzmann, A. (Andrea), Rietschel, E. (Ernst), Keil, M. (Mark), Cichon, S. (Sven), Nöthen, M.M. (Markus M.), Pennell, C.E. (Craig), Sly, P.D., Schmidt, C.O. (Carsten Oliver), Matanovic, A. (Anja), Schneider, V. (Valentin), Heinig, M. (Matthias), Hübner, N. (Norbert), Holt, P.G. (Patrick), Lau, S. (Susanne), Kabesch, M. (Michael), Weidinger, S. (Stefan), Hakonarson, H. (Hakon), Ferreira, M.A. (Manuel), Laprise, C. (Catherine), Freidin, M.B. (M.), Genuneit, J. (Jon), Koppelman, G.H. (Gerard), Melén, E. (Erik), Dizier, M.-H., Arnold, A.M. (Alice), Henderson, A.J. (A. John), Lee, Y.-A. (Young-Ae), Marenholz, I. (Ingo), Esparza-Gordillo, J. (Jorge), Rüschendorf, F. (Franz), Bauerfeind, A. (Anja), Strachan, D.P. (David P.), Spycher, B.D. (Ben D.), Baurecht, H. (Hansjörg), Margaritte-Jeannin, P. (Patricia), Sääf, A. (Annika), Kerkhof, M. (Marjan), Ege, M. (Markus), Baltic, S. (Svetlana), Matheson, J., Li, J. (Jin), Michel, S. (Sven), Ang, W.Q. (Wei Q.), McArdle, W.L. (Wendy), Homuth, G. (Georg), Demenais, F. (Florence), Bouzigon, E. (Emmanuelle), Söderhäll, C. (Cilla), Pershagen, G. (Göran), Jongste, J.C. (Johan) de, Postma, D.S. (Dirkje), Braun-Fahrländer, C. (Charlotte), Horak, E. (Elisabeth), Ogorodova, L.M. (Ludmila M.), Puzyrev, V.P. (Valery P.), Bragina, E.Y. (Elena Yu), Hudson, T.J. (Thomas), Morin, C. (Charles), Duffy, D.L. (David), Marks, G.B. (Guy B.), Robertson, C., Montgomery, G.W. (Grant), Musk, A.W. (Arthur), Thompson, P.J. (Philip), Martin, N.G. (Nicholas), James, A.L. (Alan), Sleiman, P.M.A. (Patrick), Toskala, E. (Elina), Rodríguez, P.M., Fölster-Holst, R. (R.), Franke, A. (Andre), Lieb, W. (Wolfgang), Gieger, C. (Christian), Heinzmann, A. (Andrea), Rietschel, E. (Ernst), Keil, M. (Mark), Cichon, S. (Sven), Nöthen, M.M. (Markus M.), Pennell, C.E. (Craig), Sly, P.D., Schmidt, C.O. (Carsten Oliver), Matanovic, A. (Anja), Schneider, V. (Valentin), Heinig, M. (Matthias), Hübner, N. (Norbert), Holt, P.G. (Patrick), Lau, S. (Susanne), Kabesch, M. (Michael), Weidinger, S. (Stefan), Hakonarson, H. (Hakon), Ferreira, M.A. (Manuel), Laprise, C. (Catherine), Freidin, M.B. (M.), Genuneit, J. (Jon), Koppelman, G.H. (Gerard), Melén, E. (Erik), Dizier, M.-H., Arnold, A.M. (Alice), Henderson, A.J. (A. John), and Lee, Y.-A. (Young-Ae)

Abstract

Eczema often precedes the development of asthma in a disease course called the a 'atopic march'. To unravel the genes underlying this characteristic pattern of allergic disease, we conduct a multi-stage genome-wide association study on infantile eczema followed by childhood asthma in 12 populations including 2,428 cases and 17,034 controls. Here we report two novel loci specific for the combined eczema plus asthma phenotype, which are associated with allergic disease for the first time; rs9357733 located in EFHC1 on chromosome 6p12.3 (OR 1.27; P=2.1 × 10 a'8) and rs993226 between TMTC2 and SLC6A15 on chromosome 12q21.3 (OR 1.58; P=5.3 × 10 a'9). Additional susceptibility loci identified a

Published
2015
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3. Fraction of exhaled nitric oxide values in childhood are associated with 17q11.2-q12 and 17q12-q21 variants

Author

Valk, R.J.P. (Ralf) van der, Duijts, L. (Liesbeth), Timpson, N.J. (Nicholas), Salam, M.T. (Muhammad), Standl, E. (Eberhard), Curtin, J.A. (John), Genuneit, J. (Jon), Kerhof, M. (Marjan), Kreiner-Møller, E. (Eskil), Cáceres, A. (Alejandro), Gref, A. (Anna), Liang, L. (Liming), Taal, H.R. (Rob), Bouzigon, E. (Emmanuelle), Demenais, F. (Florence), Nadif, R. (Rachel), Ober, C. (Carole), Thompson, E.E. (Emma), Estrada Gil, K. (Karol), Hofman, A. (Albert), Uitterlinden, A.G. (André), Duijn, C.M. (Cornelia) van, Rivadeneira Ramirez, F. (Fernando), Li, X. (Xia), Eckel, R. (Renate), Berhane, K. (Kiros), Gauderman, W.J. (W James), Granell, R. (Raquel), Evans, D.M. (David), St Pourcain, B. (Beate), McArdle, W.L. (Wendy), Kemp, J.P. (John), Smith, A.V. (Davey), Tiesler, C. (Carla), Flexeder, C. (Claudia), Simpson, A. (Angela), Murray, C.S. (Clare), Fuchs, O. (Oliver), Postma, D.S. (Dirkje), Bønnelykke, K. (Klaus), Torrent, M. (Maties), Andersson, M. (Martin), Sleiman, P.M.A. (Patrick), Hakonarson, H. (Hakon), Cookson, W.O. (William), Moffatt, M.F. (Miriam), Paternoster, L. (Lavinia), Melén, E. (Erik), Sunyer, J. (Jordi), Bisgaard, H. (Hans), Koppelman, G.H. (Gerard), Ege, M. (Markus), Custovic, A. (Adnan), Heinrich, J. (Joachim), Gilliland, D.G. (Gary), Henderson, A.J. (Alexander), Jaddoe, V.W.V. (Vincent), Jongste, J.C. (Johan) de, Valk, R.J.P. (Ralf) van der, Duijts, L. (Liesbeth), Timpson, N.J. (Nicholas), Salam, M.T. (Muhammad), Standl, E. (Eberhard), Curtin, J.A. (John), Genuneit, J. (Jon), Kerhof, M. (Marjan), Kreiner-Møller, E. (Eskil), Cáceres, A. (Alejandro), Gref, A. (Anna), Liang, L. (Liming), Taal, H.R. (Rob), Bouzigon, E. (Emmanuelle), Demenais, F. (Florence), Nadif, R. (Rachel), Ober, C. (Carole), Thompson, E.E. (Emma), Estrada Gil, K. (Karol), Hofman, A. (Albert), Uitterlinden, A.G. (André), Duijn, C.M. (Cornelia) van, Rivadeneira Ramirez, F. (Fernando), Li, X. (Xia), Eckel, R. (Renate), Berhane, K. (Kiros), Gauderman, W.J. (W James), Granell, R. (Raquel), Evans, D.M. (David), St Pourcain, B. (Beate), McArdle, W.L. (Wendy), Kemp, J.P. (John), Smith, A.V. (Davey), Tiesler, C. (Carla), Flexeder, C. (Claudia), Simpson, A. (Angela), Murray, C.S. (Clare), Fuchs, O. (Oliver), Postma, D.S. (Dirkje), Bønnelykke, K. (Klaus), Torrent, M. (Maties), Andersson, M. (Martin), Sleiman, P.M.A. (Patrick), Hakonarson, H. (Hakon), Cookson, W.O. (William), Moffatt, M.F. (Miriam), Paternoster, L. (Lavinia), Melén, E. (Erik), Sunyer, J. (Jordi), Bisgaard, H. (Hans), Koppelman, G.H. (Gerard), Ege, M. (Markus), Custovic, A. (Adnan), Heinrich, J. (Joachim), Gilliland, D.G. (Gary), Henderson, A.J. (Alexander), Jaddoe, V.W.V. (Vincent), and Jongste, J.C. (Johan) de

Abstract

Background: The fraction of exhaled nitric oxide (Feno) value is a biomarker of eosinophilic airway inflammation and is associated with childhood asthma. Identification of common genetic variants associated with childhood Feno values might help to define biological mechanisms related to specific asthma phenotypes. Objective: We sought to identify the genetic variants associated with childhood Feno values and their relation with asthma. Methods: Feno values were measured in children age 5 to 15 years. In 14 genome-wide association studies (N = 8,858), we examined the associations of approximately 2.5 million single nucleotide polymorphisms (SNPs) with Feno values. Subsequently, we assessed whether significant SNPs were expression quantitative trait loci in genome-wide expression data sets of lymphoblastoid cell lines (n = 1,830) and were related to asthma in a previously published genome-wide association data set (cases, n = 10,365; control subjects: n = 16,110). Results: We identified 3 SNPs associated with Feno values: rs3751972 in LYR motif containing 9 (LYRM9; P = 1.97 × 10-10) and rs944722 in inducible nitric oxide synthase 2 (NOS2; P = 1.28 × 10-9), both of which are located at 17q11.2-q12, and rs8069176 near gasdermin B (GSDMB; P = 1.88 × 10-8) at 17q12-q21. We found a cis expression quantitative trait locus for the transcript soluble galactoside-binding lectin 9 (LGALS9) that is in linkage disequilibrium with rs944722. rs8069176 was associated with GSDMB and ORM1-like 3 (ORMDL3) expression. rs8069176 at 17q12-q21, but not rs3751972 and rs944722 at 17q11.2-q12, were associated with physician-diagnosed asthma. Conclusion: This study identified 3 variants associated with Feno values, explaining 0.95% of the variance. Identification of functional SNPs and haplotypes in these regio

Published
2013
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