title: Variations in the human Th2-specific chemokine TARC gene.
abstract: Th2-specific chemokine thymus and activation-regulated chemokine (TARC)/CC chemokine ligand (CCL)17 is highly implicated in the pathogenesis of Th-2-dominated allergic diseases such as bronchial asthma (BA) and atopic dermatitis (AD). We performed polymorphism screening of the coding and promoter regions of the TARC gene. We found two rare variations in the coding region of exon 3 (2134C>T and 2037G>A) and a single nucleotide polymorphism (SNP) in the 5'-flanking region (-431C>T). Individuals carrying the 431T allele showed significantly increased serum levels of TARC compared with those not carrying the 431T allele, suggesting that this SNP has functional significance. However, when the genotypes at the SNP site were determined for 158 healthy individuals, 105 patients with BA and 148 patients with AD, we observed no significant association of the SNP with susceptibility to BA or AD.
authors.affiliation: Department of Allergy and Rheumatology, University of Tokyo Graduate School of Medicine, Tokyo, Japan.
authors.forename: Takashi
authors.initials: T
authors.lastname: Sekiya
authors.forename: Yuichiro
authors.initials: Y
authors.lastname: Tsunemi
authors.forename: Misato
authors.initials: M
authors.lastname: Miyamasu
authors.forename: Ken
authors.initials: K
authors.lastname: Ohta
authors.forename: Atsushi
authors.initials: A
authors.lastname: Morita
authors.forename: Hidehisa
authors.initials: H
authors.lastname: Saeki
authors.forename: Kouji
authors.initials: K
authors.lastname: Matsushima
authors.forename: Osamu
authors.initials: O
authors.lastname: Yoshie
authors.forename: Naoyuki
authors.initials: N
authors.lastname: Tsuchiya
authors.forename: Masao
authors.initials: M
authors.lastname: Yamaguchi
authors.forename: Kazuhiko
authors.initials: K
authors.lastname: Yamamoto
authors.forename: Kunihiko
authors.initials: K
authors.lastname: Tamaki
authors.forename: Koichi
authors.initials: K
authors.lastname: Hirai
mesh_terms: D001249:Asthma / Q000235:genetics; D001483:Base Sequence; D054414:Chemokine CCL17; D019742:Chemokines, CC / Q000097:blood / Q000235:genetics*; D003876:Dermatitis, Atopic / Q000235:genetics; D014644:Genetic Variation; D006801:Humans; D008969:Molecular Sequence Data; D020641:Polymorphism, Single Nucleotide; D018418:Th2 Cells / Q000276:immunology
chemical_list: C106230:CCL17 protein, human; D054414:Chemokine CCL17; D019742:Chemokines, CC