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

Exp Dermatol. 2004 Nov;13(11):715-9. doi: 10.1111/j.0906-6705.2004.00225.x.

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.

MeSH terms

  • Adolescent
  • Adult
  • Alleles
  • Chemokine CCL17
  • Chemokines, CC / genetics*
  • Chemokines, CC / physiology*
  • Child
  • Dermatitis, Atopic / genetics*
  • Female
  • Gene Frequency
  • Genetic Predisposition to Disease*
  • Genotype
  • Humans
  • Japan
  • Luciferases / metabolism
  • Male
  • Middle Aged
  • Polymorphism, Genetic
  • Polymorphism, Single Nucleotide*
  • Promoter Regions, Genetic
  • RNA, Messenger / metabolism
  • Reverse Transcriptase Polymerase Chain Reaction
  • Transfection

Substances

  • CCL17 protein, human
  • Chemokine CCL17
  • Chemokines, CC
  • RNA, Messenger
  • Luciferases