The -431C>T polymorphism of thymus and activation-regulated chemokine increases the promoter activity but is not associated with susceptibility to atopic dermatitis in Japanese patients |
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Authors: | Tsunemi Yuichiro Komine Mayumi Sekiya Takashi Saeki Hidehisa Nakamura Koichiro Hirai Koichi Kakinuma Takashi Kagami Shinji Fujita Hideki Asano Noriko Tanida Yuka Wakugawa Motoshi Torii Hideshi Tamaki Kunihiko |
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Institution: | Department of Dermatology, Faculty of Medicine, University of Tokyo, Tokyo, Japan. ytsun-tky@umin.ac.jp |
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Abstract: | BACKGROUND: Thymus and activation-regulated chemokine (TARC) plays an important role in the pathogenesis of atopic dermatitis (AD). We recently detected the single nucleotide polymorphism (SNP) (-431C>T) in the 5'-flanking region of TARC gene. OBJECTIVES: To examine whether the -431C>T SNP of the TARC gene is associated with susceptibility to AD and whether it affects the promoter activity of the TARC gene. METHODS: We investigated the genotype and allele frequencies of the SNP in 193 AD patients and 158 healthy controls by polymerase chain reaction-restriction fragment length polymorphism method. We compared the promoter activities between TARC promoter carrying 431C and that carrying -431T by transient-transfection assay in DJM-1 cell line. RESULTS: There were no significant differences in genotype or allele frequencies between AD patients and controls (genotype: P = 0.38, allele: P = 0.22). Luciferase activity was higher in -431T constructs than in -431C constructs (2.3-fold, P = 9.5 x 10(-6)). CONCLUSION: These results suggest that the -431C>T SNP of the TARC gene enhances the promoter activity of TARC gene but is not associated with susceptibility to AD in Japanese population. |
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Keywords: | atopic dermatitis gene promoter single nucleotide polymorphism susceptibility thymus and activation-regulated chemokine |
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