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Variations in the human Th2-specific chemokine TARC gene
Authors:Sekiya Takashi  Tsunemi Yuichiro  Miyamasu Misato  Ohta Ken  Morita Atsushi  Saeki Hidehisa  Matsushima Kouji  Yoshie Osamu  Tsuchiya Naoyuki  Yamaguchi Masao  Yamamoto Kazuhiko  Tamaki Kunihiko  Hirai Koichi
Institution:Department of Allergy and Rheumatology, University of Tokyo Graduate School of Medicine, Tokyo, Japan.
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.
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