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Series GSE8052 Query DataSets for GSE8052
Status Public on Jul 01, 2007
Title Genetic variants regulating ORMDL3 expression are determinants of susceptibility to childhood asthma
Organism Homo sapiens
Experiment type Expression profiling by array
Summary Asthma is caused by a combination of poorly understood genetic and environmental factors. We found 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 < 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 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 encode transmembrane proteins anchored in the endoplasmic reticulum. The results indicate that genetic variants regulating ORMDL3 expression are determinants of susceptibility to childhood asthma.
Keywords: association study, global gene expression, asthma, ORMDL3
 
Overall design Gene expression levels were evaluated in 404 children. We then evaluated the relationship between SNPs in the 17q21 region (which show association to asthma in the same children) with gene expression levels.

Definition of abbreviations used in Sample records:

ped: an anonymized family id, helps identify related individuals
id: an anonymized unique id within each family
fatid: an anonymized id for the father of each individual, helps
identify siblings
motid: an anonymized id for the mother of each individual, helps
identify siblings
Sex: 1=male, 2=female
Country: UK = United Kingdom, D = Germany
DDAST: Doctor diagnosed asthma; 0 - unknown, 1 - unaffected, 2 - affected

Note: id, fatid and motid may be recycled across families. A zero indicates the parents are not available and the individual has no siblings in the dataset
 
Contributor(s) Moffatt MF, Kabesch M, Liang L, Dixon AL, Strachan D, Heath S, Depner M, von Berg A, Bufe A, Rietschel E, Heinzmann A, Simma B, Frischer T, Willis-Owen SA, Wong KC, Illig T, Vogelberg C, Weiland SK, von Mutius E, Abecasis GR, Farrall M, Gut IG, Lathrop G, Cookson WO
Citation(s) 17611496
Submission date Jun 07, 2007
Last update date Mar 25, 2019
Contact name Goncalo Abecasis
E-mail(s) goncalo@umich.edu
Organization name University of Michigan
Street address 1420 Washington Heights
City Ann Arbor
State/province MI
ZIP/Postal code 48109
Country USA
 
Platforms (1)
GPL570 [HG-U133_Plus_2] Affymetrix Human Genome U133 Plus 2.0 Array
Samples (404)
GSM199024 Lymphoblastoid Cell Line for Individual 8001.4 log phase
GSM199025 Lymphoblastoid Cell Line for Individual 8002.4 log phase
GSM199026 Lymphoblastoid Cell Line for Individual 8003.6 log phase
Relations
BioProject PRJNA100881

Download family Format
SOFT formatted family file(s) SOFTHelp
MINiML formatted family file(s) MINiMLHelp
Series Matrix File(s) TXTHelp

Supplementary file Size Download File type/resource
GSE8052_RAW.tar 1.7 Gb (http)(custom) TAR (of CEL)
GSE8052_additional_info.txt 1.2 Mb (ftp)(http) TXT
Processed data included within Sample table
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