title: Are Podoplanin Gene Polymorphisms Associated with Atopic Dermatitis in Koreans?
abstract: BACKGROUND
  The histologic characteristics of atopic dermatitis (AD) include perivascular edema and dilated tortuous vessels in the papillary dermis. A single nucleotide polymorphism (SNP) of the fms-related tyrosine kinase 4 (FLT4) gene is associated with AD.
  
  
  OBJECTIVE
  To investigate the associations between podoplanin (PDPN) gene SNPs and AD.
  
  
  METHODS
  We genotyped 9 SNPs from 5 genes of 1,119 subjects (646 AD patients and 473 controls). We determined the promoter activity of 1 SNP (rs355022) by luciferase assay; this SNP was further investigated using 1,133 independent samples (441 AD patients and 692 controls).
  
  
  RESULTS
  The rs355022 and rs425187 SNPs and the C-A haplotype in the PDPN gene were significantly associated with intrinsic AD in the initial experiment. The rs355022 SNP significantly affected promoter activity in the luciferase assay. However, these results were not replicated in the replication study.
  
  
  CONCLUSIONS
  Two SNPs and the C-A haplotype in the PDPN gene are significantly associated with intrinsic AD; although, the results were confirmed by luciferase assay, they could not be replicated with independent samples. Nevertheless, further replication experiments should be performed in future studies.
authors.affiliation: Department of Dermatology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea. ; Case Western Reserve University School of Medicine, Cleveland, OH, USA.
authors.forename: Jung-Hyun
authors.initials: JH
authors.lastname: Namkung
authors.affiliation: Department of Dermatology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
authors.forename: Eugene
authors.initials: E
authors.lastname: Kim
authors.affiliation: Department of Dermatology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea. ; Yangtze Delta Region Institute of Tsinghua University, Zhejiang, China.
authors.forename: Yong-Doo
authors.initials: YD
authors.lastname: Park
authors.affiliation: Laboratory of Cellular Neurobiology, Department of Oral Anatomy, School of Dentistry, Seoul National University, Seoul, Korea.
authors.forename: Geontae
authors.initials: G
authors.lastname: Park
authors.affiliation: Department of Dermatology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
authors.forename: Jun-Mo
authors.initials: JM
authors.lastname: Yang
keywords: Atopic dermatitis; Genetic polymorphisms; Luciferases; Podoplanin protein