RGD Reference Report - Pathogenicity of a disease-associated human IL-4 receptor allele in experimental asthma. - Rat Genome Database

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Pathogenicity of a disease-associated human IL-4 receptor allele in experimental asthma.

Authors: Tachdjian, R  Mathias, C  Al Khatib, S  Bryce, PJ  Kim, HS  Blaeser, F  O'Connor, BD  Rzymkiewicz, D  Chen, A  Holtzman, MJ  Hershey, GK  Garn, H  Harb, H  Renz, H  Oettgen, HC  Chatila, TA 
Citation: Tachdjian R, etal., J Exp Med. 2009 Sep 28;206(10):2191-204. Epub 2009 Sep 21.
RGD ID: 4890003
Pubmed: PMID:19770271   (View Abstract at PubMed)
PMCID: PMC2757875   (View Article at PubMed Central)
DOI: DOI:10.1084/jem.20091480   (Journal Full-text)

Polymorphisms in the interleukin-4 receptor alpha chain (IL-4R alpha) have been linked to asthma incidence and severity, but a causal relationship has remained uncertain. In particular, a glutamine to arginine substitution at position 576 (Q576R) of IL-4R alpha has been associated with severe asthma, especially in African Americans. We show that mice carrying the Q576R polymorphism exhibited intense allergen-induced airway inflammation and remodeling. The Q576R polymorphism did not affect proximal signal transducer and activator of transcription (STAT) 6 activation, but synergized with STAT6 in a gene target- and tissue-specific manner to mediate heightened expression of a subset of IL-4- and IL-13-responsive genes involved in allergic inflammation. Our findings indicate that the Q576R polymorphism directly promotes asthma in carrier populations by selectively augmenting IL-4R alpha-dependent signaling.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
asthma  ISOIl4ra (Mus musculus)4890003; 4890003DNA:mutation:cds:p.Q576R (mouse)RGD 
asthma  IMP 4890003DNA:mutation:cds:p.Q576R (mouse)RGD 

Objects Annotated

Genes (Rattus norvegicus)
Il4r  (interleukin 4 receptor)

Genes (Mus musculus)
Il4ra  (interleukin 4 receptor, alpha)

Genes (Homo sapiens)
IL4R  (interleukin 4 receptor)


Additional Information