RGD Reference Report - A novel polymorphism, E254K, in the 5-lipoxygenase gene associated with bronchial asthma. - Rat Genome Database

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A novel polymorphism, E254K, in the 5-lipoxygenase gene associated with bronchial asthma.

Authors: Bai, C  Matsui, E  Ohnishi, H  Kimata, K  Kasahara, K  Kaneko, H  Kato, Z  Fukao, T  Kondo, N 
Citation: Bai C, etal., Int J Mol Med. 2008 Feb;21(2):139-44.
RGD ID: 4890410
Pubmed: PMID:18204779   (View Abstract at PubMed)

Cysteinyl-leukotrienes are important pro-inflammatory mediators in bronchial asthma (BA) and are derived from arachidonic acid by the action of 5-lipoxygenase. We identified a novel polymorphism, c.760 G>A (E254K), in exon 6 of the 5-lipoxygenase gene (5-LO). This substitution was detected in 11 out of 180 patients with BA, but not in any of the 150 non-allergic subjects. The frequency of c.760 G>A showed a significant difference between BA and non-allergic subjects (P=0.0007). The c.760 G>A polymorphism existed at the surface edge of the C-terminal catalytic domain, and the E-to-K substitution changed the charge of the side chain from negative to positive. Thus, our results suggest that E254K in the 5-LO might be associated with BA.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
asthma  IAGP 4890410DNA:polymorphism:cds:p.E254K (human)RGD 
asthma  ISOALOX5 (Homo sapiens)4890410; 4890410DNA:polymorphism:cds:p.E254K (human)RGD 

Objects Annotated

Genes (Rattus norvegicus)
Alox5  (arachidonate 5-lipoxygenase)

Genes (Mus musculus)
Alox5  (arachidonate 5-lipoxygenase)

Genes (Homo sapiens)
ALOX5  (arachidonate 5-lipoxygenase)


Additional Information