title: A novel single-nucleotide substitution, Glu 4 Lys, in the leukotriene C4 synthase gene associated with allergic diseases.
abstract: Cysteinyl leukotrienes (cysLTs) play important roles in bronchial asthma, and can mediate bronchial smooth muscle constriction and increase mucous secretion, vascular permeability and cellular infiltration. We identified a novel heterozygous single-nucleotide substitution 10G>A (Glu 4 Lys) in the first exon of the leukotriene C4 synthase gene (LTC4S). This substitution was detected in 5 of 141 allergic patients, but not in 110 nonallergic subjects. There was a difference in the Glu 4 Lys frequency between the allergic patients and nonallergic subjects (Fisher's exact test, p=0.0460). The five patients with Glu 4 Lys had allergic diseases such as bronchial asthma and/or allergic dermatitis. Furthermore, a familial analysis of Glu 4 Lys revealed a link with allergic diseases. Thus, our results suggest that Glu 4 Lys in the LTC4S might be associated with allergic diseases.
authors.affiliation: Department of Pediatrics, Graduate School of Medicine, Gifu University, Yoro-gun, Gifu 501-1193, Japan. kimatan@tj8.so-net.ne.jp
authors.forename: Kaori
authors.initials: K
authors.lastname: Yoshikawa
authors.forename: Eiko
authors.initials: E
authors.lastname: Matsui
authors.forename: Hideo
authors.initials: H
authors.lastname: Kaneko
authors.forename: Toshiyuki
authors.initials: T
authors.lastname: Fukao
authors.forename: Ryosuke
authors.initials: R
authors.lastname: Inoue
authors.forename: Takahide
authors.initials: T
authors.lastname: Teramoto
authors.forename: Shinji
authors.initials: S
authors.lastname: Shinoda
authors.forename: Osamu
authors.initials: O
authors.lastname: Fukutomi
authors.forename: Minako
authors.initials: M
authors.lastname: Aoki
authors.forename: Kimiko
authors.initials: K
authors.lastname: Kasahara
authors.forename: Naomi
authors.initials: N
authors.lastname: Kondo
mesh_terms: D000293:Adolescent; D000328:Adult; D019943:Amino Acid Substitution / Q000235:genetics; D001249:Asthma / Q000235:genetics*; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D003876:Dermatitis, Atopic / Q000235:genetics*; D005260:Female; D018698:Glutamic Acid / Q000235:genetics; D005982:Glutathione Transferase / Q000235:genetics*; D006801:Humans; D006969:Hypersensitivity, Immediate / Q000235:genetics*; D007223:Infant; D008239:Lysine / Q000235:genetics; D008297:Male; D017354:Point Mutation; D012130:Respiratory Hypersensitivity / Q000235:genetics*
chemical_list: D018698:Glutamic Acid; D005982:Glutathione Transferase; C041116:leukotriene-C4 synthase; D008239:Lysine