Single nucleotide polymorphisms and the haplotype in the DEFB1 gene are associated with atopic dermatitis in a Korean population

We identified that two single nucleotide polymorphism and the haplotype CT in the DEFB1 gene are associated with Atopic dermatitis in Koreans

Eugene Kim

2009

Scholarcy highlights

  • Atopic dermatitis patients have been recognized to have an increased susceptibility to cutaneous colonization and infection by bacteria, fungi and viruses
  • We wanted to evaluate the associations of single nucleotide polymorphism and the haplotype in the defensin and defensin genes, and so we performed genotyping for the SNPs in these genes in both AD patients and normal controls
  • We identified that two SNPs and the haplotype CT in the DEFB1 gene are associated with AD in Koreans
  • We found that the rs5743399 SNP, the rs5743409 SNP and the CT haplotype in the DEFB1 gene were significantly associated with the susceptibility to AD
  • We found that rs5743399 polymorphism and the haplotype CT in this gene showed a strong association with the allergic, extrinsic type of AD
  • These results suggest that the DEFB1 gene has a main effect on the skin inflammation and/or skin responsiveness to any kind of allergic reaction

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