RGD Reference Report - NOD1 variation, immunoglobulin E and asthma. - Rat Genome Database

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NOD1 variation, immunoglobulin E and asthma.

Authors: Hysi, P  Kabesch, M  Moffatt, MF  Schedel, M  Carr, D  Zhang, Y  Boardman, B  Von Mutius, E  Weiland, SK  Leupold, W  Fritzsch, C  Klopp, N  Musk, AW  James, A  Nunez, G  Inohara, N  Cookson, WO 
Citation: Hysi P, etal., Hum Mol Genet. 2005 Apr 1;14(7):935-41. Epub 2005 Feb 17.
RGD ID: 5131518
Pubmed: PMID:15718249   (View Abstract at PubMed)
DOI: DOI:10.1093/hmg/ddi087   (Journal Full-text)

Asthma is a familial inflammatory disease of the airways of the lung. Microbial exposures in childhood protect against asthma through unknown mechanisms. The innate immune system is able to identify microbial components through a variety of pattern-recognition receptors (PRRs). NOD1 is an intracellular PRR that initiates inflammation in response to bacterial diaminopimelic acid (iE-DAP). The NOD1 gene is on chromosome 7p14, in a region that has been genetically linked to asthma. We carried out a systematic search for polymorphism in the gene. We found an insertion-deletion polymorphism (ND(1)+32656) near the beginning of intron IX that accounted for approximately 7% of the variation in IgE in two panels of families (P<0.0005 in each). Allele*2 (the insertion) was associated with high IgE levels. The same allele was strongly associated with asthma in an independent study of 600 asthmatic children and 1194 super-normal controls [odds ratio (OR) 6.3; 95% confidence interval (CI) 1.4-28.3, dominant model]. Differential binding of the two ND(1)+32656 alleles was observed to a protein from nuclei of the Calu 3 epithelial cell line. In an accompanying study, the deletion allele (ND(1)+32656*1) was found to be associated with inflammatory bowel disease. The results indicate that intracellular recognition of specific bacterial products affects the presence of childhood asthma.

RGD Manual Disease Annotations    Click to see Annotation Detail View

Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
NOD1Humanasthma  IAGP DNA:insertion:cds:RGD 
Nod1Mouseasthma  ISONOD1 (Homo sapiens)DNA:insertion:cds:RGD 
Nod1Ratasthma  ISONOD1 (Homo sapiens)DNA:insertion:cds:RGD 

Objects Annotated

Genes (Rattus norvegicus)
Nod1  (nucleotide-binding oligomerization domain containing 1)

Genes (Mus musculus)
Nod1  (nucleotide-binding oligomerization domain containing 1)

Genes (Homo sapiens)
NOD1  (nucleotide binding oligomerization domain containing 1)

Additional Information