title: Single nucleotide polymorphisms and the haplotype in the DEFB1 gene are associated with atopic dermatitis in a Korean population.
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.
  
  
  METHODS
  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.
  
  
  RESULTS
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Department of Dermatology, Sungkyunkwan University School of Medicine, Samsung Medical Center, Seoul 135-710, South Korea.
authors.forename: Eugene
authors.initials: E
authors.lastname: Kim
authors.forename: Jong-Eun
authors.initials: JE
authors.lastname: Lee
authors.forename: Jung-Hyun
authors.initials: JH
authors.lastname: Namkung
authors.forename: Pyoung-Su
authors.initials: PS
authors.lastname: Kim
authors.forename: Sook
authors.initials: S
authors.lastname: Kim
authors.forename: Eun-Soon
authors.initials: ES
authors.lastname: Shin
authors.forename: Eun-Young
authors.initials: EY
authors.lastname: Cho
authors.forename: Jun-Mo
authors.initials: JM
authors.lastname: Yang
mesh_terms: D000293:Adolescent; D000483:Alleles; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D026281:DEFICIENS Protein / Q000235:genetics* / Q000276:immunology; D003876:Dermatitis, Atopic / Q000453:epidemiology / Q000235:genetics* / Q000276:immunology; D005260:Female; D005787:Gene Frequency / Q000235:genetics; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006239:Haplotypes / Q000235:genetics*; D006801:Humans; D007223:Infant; D007723:Korea / Q000453:epidemiology; D008297:Male; D020641:Polymorphism, Single Nucleotide; D055815:Young Adult; D023083:beta-Defensins / Q000235:genetics* / Q000276:immunology
chemical_list: C406407:DEFB1 protein, human; D026281:DEFICIENS Protein; D023083:beta-Defensins