Genetic variants regulating ORMDL3 expression contribute to the risk of childhood asthma

Miriam F MoffattWilliam O C Cookson


Asthma is caused by a combination of poorly understood genetic and environmental factors. 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...Continue Reading


Nov 5, 2013·Biochemical Pharmacology·Kevin MullaneMichael Williams
Mar 30, 2011·Archivum Immunologiae Et Therapiae Experimentalis·Johannes StephaniJan Hendrik Niess
Mar 29, 2013·Seminars in Immunopathology·Fabiola OsorioSophie Janssens
Apr 17, 2013·Seminars in Immunopathology·Arthur KaserRichard S Blumberg
Apr 11, 2008·Human Genetics·Shweta ChoudhryEsteban G Burchard
Nov 10, 2010·Human Genetics·Joseph M DevaneyEric P Hoffman
Oct 22, 2011·Cell and Tissue Research·Rui JinGuo-Ping Zhou
Dec 10, 2008·Current Allergy and Asthma Reports·Saffron A G Willis-OwenMiriam F Moffatt
Oct 10, 2009·Current Allergy and Asthma Reports·Daniel Arnold, Bridgette L Jones
Dec 6, 2012·Current Allergy and Asthma Reports·Samuel J Wadsworth, Andrew J Sandford
May 4, 2011·Clinical Reviews in Allergy & Immunology·Albin B LeongJuan C Celedón
Nov 10, 2012·Theory in Biosciences = Theorie in Den Biowissenschaften·Hong Li
Feb 2, 2010·Gastroentérologie Clinique Et Biologique·C Jung, J-P Hugot
Jan 17, 2014·The Lancet. Respiratory Medicine·Oliver Fuchs, Erika von Mutius
Feb 21, 2008·European Journal of Human Genetics : EJHG·Ku Chee Seng, Chia Kee Seng
Nov 21, 2008·European Journal of Human Genetics : EJHG·Simon HeathMark Lathrop
Dec 19, 2008·European Journal of Human Genetics : EJHG·Craig C TeerlinkLisa A Cannon-Albright
Jul 9, 2009·European Journal of Human Genetics : EJHG·Gang PengMomiao Xiong
Jan 14, 2010·European Journal of Human Genetics : EJHG·Emmanuelle BouzigonCathryn M Lewis
Feb 19, 2009·European Journal of Human Genetics : EJHG·Tim Becker, Christine Herold
Dec 15, 2010·European Journal of Human Genetics : EJHG·Manuel A R FerreiraNicholas G Martin
Apr 8, 2010·European Journal of Human Genetics : EJHG·Eva HalapiKari Stefansson
Jan 23, 2009·Journal of Human Genetics·Yusuke Nakamura
Oct 10, 2009·Journal of Human Genetics·Guicheng ZhangPeter LeSouëf
Oct 29, 2010·Journal of Human Genetics·Aristea BiniaMiriam F Moffatt
Mar 20, 2010·Journal of Human Genetics·Chee Seng KuKee Seng Chia
May 1, 2010·Journal of Human Genetics·Jeong-Hyun KimHyoung Doo Shin
Jan 27, 2012·Journal of Human Genetics·Yukinori Okada, Yoichiro Kamatani
Feb 26, 2010·Nature·David K BreslowJonathan S Weissman
Mar 12, 2010·Nature·Joseph K PickrellJonathan K Pritchard
Mar 12, 2010·Nature·Stephen B MontgomeryEmmanouil T Dermitzakis
Sep 24, 2013·Nature Communications·Sung Gil HaP Sriramarao


Jun 8, 2000·Bioinformatics·Gonçalo R Abecasis, William O C Cookson
Dec 4, 2001·Nature Genetics·Gonçalo R AbecasisLon R Cardon
Jul 3, 2002·Genome Biology·Lars HjelmqvistRoser Gonzàlez-Duarte
Mar 21, 2003·Nature·Eric E SchadtStephen H Friend
Jul 29, 2003·Proceedings of the National Academy of Sciences of the United States of America·John D Storey, Robert Tibshirani
Jul 23, 2004·Nature·Michael MorleyVivian G Cheung
Sep 11, 2004·The European Respiratory Journal·Stephan K WeilandInternational Study of Asthma and Allergies in Childhood Phase II Study Group
Dec 2, 2004·Nature Reviews. Immunology·William O C Cookson
Apr 20, 2005·Nature Genetics·Kevin L GundersonMark S Chee
Dec 16, 2005·Genome Research·Efrosini SetakisDavid J Balding
Dec 22, 2005·Nature Methods·Frank J SteemersKevin L Gunderson
Jan 6, 2006·Genes and Immunity·C Ober, S Hoffjan
Aug 22, 2006·Nature Genetics·Joshua T BurdickVivian G Cheung

Related Concepts

ORMDL3 gene
ORMDL3 protein, human
Integral to Membrane
Late Onset Disorders
Chromosomes, Human, Pair 17
Nested Case-Control Studies
Epstein-Barr Virus

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