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    Int J Mol Med. 2008 Feb;21(2):139-44.

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

    Bai C, Matsui E, Ohnishi H, Kimata K, Kasahara K, Kaneko H, Kato Z, Fukao T, Kondo N.

    Department of Pediatrics, Graduate School of Medicine, Gifu University, Gifu 501-1193, Japan.

    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.

    PMID: 18204779 [PubMed - indexed for MEDLINE]

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