title: Association of beta-defensin 1 single nucleotide polymorphisms with atopic dermatitis.
abstract: BACKGROUND
  Atopic dermatitis (AD) is a chronic multifactorial allergic disease with unclear etiology. The antimicrobial human beta-defensin 1 is chemotactic for dendritic cells, which are important regulators of allergic immune responses. In an attempt to identify useful markers that could predict susceptibility to AD, we investigated single nucleotide polymorphisms (SNPs) of the beta-defensin 1 gene (DEFB1) with potential functional consequences.
  
  
  METHODS
  Four SNPs of the DEFB1 gene were genotyped either by real-time polymerase chain reaction or polymerase chain reaction-restriction fragment length polymorphisms in 59 patients with AD and 151 controls from the Mexican population. Correlation analyses were carried out between genetic, environmental and clinical variables in AD patients.
  
  
  RESULTS
  The genotypes associated with susceptibility to AD and no other allergy were 692 GG (OR = 3.21, 95% CI 1.37-7.34) and 1654 AA (OR = 17.37, 95% CI 1.62-860.83). The allele 668 C is a risk factor for AD (OR = 2.23, 95% CI 1.22-4.01) and the allele A in site 1836 correlates with earlier age at onset (Spearman's rho = 0.232; p = 0.03). The prolonged duration of breastfeeding correlates with earlier age at onset as well as with the severity of AD.
  
  
  CONCLUSIONS
  The DEFB1 gene is probably involved in the incidence and development of AD, but additional functional studies will be necessary to understand the biological role of these SNPs.
authors.affiliation: PhD Program in Human Genetics, Universidad de Guadalajara, Guadalajara, Jalisco, México.
authors.forename: Ernesto
authors.initials: E
authors.lastname: Prado-Montes de Oca
authors.forename: Alejandro
authors.initials: A
authors.lastname: García-Vargas
authors.forename: Reymundo
authors.initials: R
authors.lastname: Lozano-Inocencio
authors.forename: Martha Patricia
authors.initials: MP
authors.lastname: Gallegos-Arreola
authors.forename: Lucila
authors.initials: L
authors.lastname: Sandoval-Ramírez
authors.forename: Nory Omara
authors.initials: NO
authors.lastname: Dávalos-Rodríguez
authors.forename: Luis Eduardo
authors.initials: LE
authors.lastname: Figuera
mesh_terms: D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D001942:Breast Feeding; D002648:Child; D002675:Child, Preschool; D003876:Dermatitis, Atopic / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D007223:Infant; D015810:Linkage Disequilibrium; D008297:Male; D012150:Polymorphism, Restriction Fragment Length; D020641:Polymorphism, Single Nucleotide; D020133:Reverse Transcriptase Polymerase Chain Reaction; D023083:beta-Defensins / Q000235:genetics*
chemical_list: C406407:DEFB1 protein, human; D023083:beta-Defensins