title: Variations in the human CC chemokine eotaxin gene.
abstract: The CC chemokine eotaxin (CCL11) plays a major role in the recruitment and activation of eosinophils in allergic disorders. In the present study, we performed polymorphism screening of the coding and promoter regions of the eotaxin gene (SCYA11). A G to A single nucleotide substitution was detected at position 67, which resulted in a non-conservative amino acid change of Ala at position 23 to Thr (A23T) within the signal peptide. Two single nucleotide substitutions, ie, C to T at position -426 (-426C>T), and A to G at position -384 (-384A>G), were detected in the 5'-flanking regions. Significant linkage disequilibrium was observed between positions -426 and -384, and also between -384 and +67. No significant association was observed between these variations and susceptibility to asthma.
authors.affiliation: Department of Allergy and Rheumatology, University of Tokyo Graduate School of Medicine, Tokyo, Japan.
authors.forename: M
authors.initials: M
authors.lastname: Miyamasu
authors.forename: T
authors.initials: T
authors.lastname: Sekiya
authors.forename: K
authors.initials: K
authors.lastname: Ohta
authors.forename: C
authors.initials: C
authors.lastname: Ra
authors.forename: O
authors.initials: O
authors.lastname: Yoshie
authors.forename: K
authors.initials: K
authors.lastname: Yamamoto
authors.forename: N
authors.initials: N
authors.lastname: Tsuchiya
authors.forename: K
authors.initials: K
authors.lastname: Tokunaga
authors.forename: K
authors.initials: K
authors.lastname: Hirai
mesh_terms: D000328:Adult; D019943:Amino Acid Substitution; D001249:Asthma / Q000209:etiology / Q000235:genetics; D054413:Chemokine CCL11; D019742:Chemokines, CC / Q000235:genetics*; D002631:Chemotactic Factors, Eosinophil; D004252:DNA Mutational Analysis; D005260:Female; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation; D006801:Humans; D008297:Male; D020641:Polymorphism, Single Nucleotide; D011401:Promoter Regions, Genetic
chemical_list: C515456:CCL11 protein, human; D054413:Chemokine CCL11; D019742:Chemokines, CC; D002631:Chemotactic Factors, Eosinophil