Variations in the human Th2-specific chemokine TARC gene.
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.
Sekiya
Takashi
T
Department of Allergy and Rheumatology, University of Tokyo Graduate School of Medicine, Tokyo, Japan.
Tsunemi
Yuichiro
Y
Miyamasu
Misato
M
Ohta
Ken
K
Morita
Atsushi
A
Saeki
Hidehisa
H
Matsushima
Kouji
K
Yoshie
Osamu
O
Tsuchiya
Naoyuki
N
Yamaguchi
Masao
M
Yamamoto
Kazuhiko
K
Tamaki
Kunihiko
K
Hirai
Koichi
K
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
C106230:CCL17 protein, human; D054414:Chemokine CCL17; D019742:Chemokines, CC