Genetic variants regulating ORMDL3 expression contribute to the risk of childhood asthma
dc.contributor.author | Moffatt, Miriam F. | en_US |
dc.contributor.author | Kabesch, Michael | en_US |
dc.contributor.author | Liang, Liming | en_US |
dc.contributor.author | Dixon, Anna L. | en_US |
dc.contributor.author | Strachan, David | en_US |
dc.contributor.author | Heath, Simon | en_US |
dc.contributor.author | Depner, Martin | en_US |
dc.contributor.author | von Berg, Andrea | en_US |
dc.contributor.author | Bufe, Albrecht | en_US |
dc.contributor.author | Rietschel, Ernst | en_US |
dc.contributor.author | Heinzmann, Andrea | en_US |
dc.contributor.author | Simma, Burkard | en_US |
dc.contributor.author | Frischer, Thomas | en_US |
dc.contributor.author | Willis-Owen, Saffron A. G. | en_US |
dc.contributor.author | Wong, Kenny C. C. | en_US |
dc.contributor.author | Illig, Thomas | en_US |
dc.contributor.author | Vogelberg, Christian | en_US |
dc.contributor.author | Weiland, Stephan K. | en_US |
dc.contributor.author | von Mutius, Erika | en_US |
dc.contributor.author | Abecasis, Gonçalo R. | en_US |
dc.contributor.author | Farrall, Martin | en_US |
dc.contributor.author | Gut, Ivo G. | en_US |
dc.contributor.author | Lathrop, G. Mark | en_US |
dc.contributor.author | Cookson, William O. C. | en_US |
dc.date.accessioned | 2009-06-01T17:31:19Z | |
dc.date.available | 2009-06-01T17:31:19Z | |
dc.date.issued | 2007-07-26 | en_US |
dc.identifier.citation | Moffatt, Miriam F.; Kabesch, Michael; Liang, Liming; Dixon, Anna L.; Strachan, David; Heath, Simon; Depner, Martin; von Berg, Andrea; Bufe, Albrecht; Rietschel, Ernst; Heinzmann, Andrea; Simma, Burkard; Frischer, Thomas; Willis-Owen, Saffron A. G.; Wong, Kenny C. C.; Illig, Thomas; Vogelberg, Christian; Weiland, Stephan K.; von Mutius, Erika; Abecasis, Goncalo R.; Farrall, Martin; Gut, Ivo G.; Lathrop, G. Mark; Cookson, William O. C.. (2007) "Genetic variants regulating ORMDL3 expression contribute to the risk of childhood asthma." Nature 448(7152): 470-U5. <http://hdl.handle.net/2027.42/62682> | en_US |
dc.identifier.issn | 0028-0836 | en_US |
dc.identifier.uri | https://hdl.handle.net/2027.42/62682 | |
dc.identifier.uri | http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=retrieve&db=pubmed&list_uids=17611496&dopt=citation | en_US |
dc.description.abstract | Asthma is caused by a combination of poorly understood genetic and environmental factors(1,2). We have systematically mapped the effects of single nucleotide polymorphisms ( SNPs) on the presence of childhood onset asthma by genome-wide association. We characterized more than 317,000 SNPs in DNA from 994 patients with childhood onset asthma and 1,243 non-asthmatics, using family and case-referent panels. Here we show multiple markers on chromosome 17q21 to be strongly and reproducibly associated with childhood onset asthma in family and case-referent panels with a combined P value of P < 10(-12). In independent replication studies the 17q21 locus showed strong association with diagnosis of childhood asthma in 2,320 subjects from a cohort of German children (P=0.0003) and in 3,301 subjects from the British 1958 Birth Cohort (P=0.0005). We systematically evaluated the relationships between markers of the 17q21 locus and transcript levels of genes in Epstein - Barr virus (EBV)-transformed lymphoblastoid cell lines from children in the asthma family panel used in our association study. The SNPs associated with childhood asthma were consistently and strongly associated (P < 10(-22)) in cis with transcript levels of ORMDL3, a member of a gene family that encodes transmembrane proteins anchored in the endoplasmic reticulum(3). The results indicate that genetic variants regulating ORMDL3 expression are determinants of susceptibility to childhood asthma. | en_US |
dc.format.extent | 569424 bytes | |
dc.format.extent | 2489 bytes | |
dc.format.mimetype | application/pdf | |
dc.format.mimetype | text/plain | |
dc.publisher | Nature Publishing Group | en_US |
dc.source | Nature | en_US |
dc.title | Genetic variants regulating ORMDL3 expression contribute to the risk of childhood asthma | en_US |
dc.type | Article | en_US |
dc.subject.hlbtoplevel | Science | en_US |
dc.description.peerreviewed | Peer Reviewed | en_US |
dc.contributor.affiliationum | Univ Michigan, Dept Biostat, Ctr Stat Genet, Ann Arbor, MI 48109 USA | en_US |
dc.contributor.affiliationother | Univ London Imperial Coll Sci Technol & Med, Natl Heart & Lung Inst, London SW3 6LY, England | en_US |
dc.contributor.affiliationother | Univ Munich, Childrens Hosp, D-80337 Munich, Germany | en_US |
dc.contributor.affiliationother | Univ Oxford, Wellcome Trust, Ctr Human Genet, Oxford OX3 7BN, England | en_US |
dc.contributor.affiliationother | Univ London, Div Community Hlth Sci, London SW17 0RE, England | en_US |
dc.contributor.affiliationother | CEA, Ctr Natl Genotypage, Inst Genom, F-91057 Evry, France | en_US |
dc.contributor.affiliationother | Marien Hosp, Res Inst Prevent Allerg Dis, Childrens Dept, D-46483 Wesel, Germany | en_US |
dc.contributor.affiliationother | Ruhr Univ Bochum, Dept Expt Pneumol, D-44789 Bochum, Germany | en_US |
dc.contributor.affiliationother | Univ Cologne, Childrens Hosp, D-50924 Cologne, Germany | en_US |
dc.contributor.affiliationother | Univ Freiburg, Childrens Hosp, D-79106 Freiburg, Germany | en_US |
dc.contributor.affiliationother | Feldkirch Hosp, Childrens Dept, A-6800 Feldkirch, Austria | en_US |
dc.contributor.affiliationother | Univ Vienna, Childrens Hosp, A-1090 Vienna, Austria | en_US |
dc.contributor.affiliationother | GSF, Res Ctr Environm & Hlth, Inst Epidemiol, D-85764 Neuherberg, Germany | en_US |
dc.contributor.affiliationother | Tech Univ Dresden, Childrens Hosp, S-01307 Dresden, Germany | en_US |
dc.contributor.affiliationother | Univ Ulm, Inst Epidemiol, D-89081 Ulm, Germany | en_US |
dc.identifier.pmid | 17611496 | en_US |
dc.description.bitstreamurl | http://deepblue.lib.umich.edu/bitstream/2027.42/62682/1/nature06014.pdf | |
dc.identifier.doi | http://dx.doi.org/10.1038/nature06014 | en_US |
dc.identifier.source | Nature | en_US |
dc.contributor.authoremail | w.cookson@imperial.ac.uk | en_US |
dc.owningcollname | Interdisciplinary and Peer-Reviewed |
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