Abstract
Background
Atopic dermatitis (AD) patients have been recognized to have an increased susceptibility
to cutaneous colonization and infection by bacteria, fungi and viruses.
Objective
We wanted to evaluate the associations of single nucleotide polymorphism (SNP) and
the haplotype in the defensin (DEFA) and defensin (DEFB) genes, and so we performed
genotyping for the SNPs in these genes in both AD patients and normal controls.
Method
We genotyped 27 SNPs from the DEFA 4, 5 and 6 genes and the DEFB1 gene for 1089 case–control
samples (631 AD patients and 458 normal controls). We analyzed the SNPs and haplotypes
in each gene.
Result
We identified that two SNPs and the haplotype CT in the DEFB1 gene are associated
with AD in Koreans. The rs5743399 (−2266T/C) SNP is associated with AD, and especially
with the high IgE, extrinsic type, and the rs5743409 (−1241T/G) SNP is associated
with AD. On the haplotype analysis of these two SNPs, the haplotype CT is associated
with AD, and especially with the allergic, extrinsic type of AD. However, we could
not find any significant associations between the SNPs in the three DEFA genes and
AD.
Conclusion
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 also 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.
Keywords
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Article info
Publication history
Published online: July 12, 2010
Accepted:
December 2,
2008
Received in revised form:
November 26,
2008
Received:
July 7,
2008
Identification
Copyright
© 2009 Published by Elsevier Inc.
