Filaggrin loss-of-function mutations are not a predisposing factor for atopic dermatitis in an Ishigaki Island under subtropical climate

J Dermatol Sci. 2014 Oct;76(1):10-5. doi: 10.1016/j.jdermsci.2014.06.004. Epub 2014 Jul 2.

Abstract

Background: Filaggrin (FLG) is a major protein component of the stratum corneum (SC) layer, and FLG loss-of-function mutations are a predisposing factor for atopic dermatitis (AD). Previous cohort studies of children from northern and western Europe have reported FLG loss-of-function mutation frequencies of 15.1-20.9% and 5.8-13.0% in AD and non-AD groups, respectively.

Objective: To elucidate the association between AD prevalence of FLG loss-of-function mutation carriers and climate conditions, we determined the AD prevalence and FLG loss-of-function mutation frequencies in a cohort of children from Ishigaki Island. Ishigaki Island has a subtropical climate with high humidity (monthly average, 60.8-78.7%) and high temperature (monthly average, 18.5-29.4°C) throughout the year.

Methods: We diagnosed AD prevalence and analyzed eight FLG loss-of-function mutations in the Japanese population against a cohort of 721 children from the Kyushu University Ishigaki Atopic Dermatitis Study (KIDS) cohort. Parents gave consent for the mutation analysis during their medical examinations from 2001 to 2006.

Results: Average AD prevalence was 7.3% per year, and a total of 127 children (17.6%) were diagnosed with AD at least once between 2001 and 2006. The average total serum IgE level differed significantly between the AD and non-AD groups (199.0 and 69.0IU/ml, respectively). Although five kinds of FLG loss-of-function mutations isolated in previous Japanese FLG mutation studies were identified, the FLG loss-of-function mutation frequency in children of the KIDS cohort was not significantly different between the AD and non-AD groups (7.9% and 6.1%, respectively; P=0.174).

Conclusion: The FLG loss-of-function mutation frequency was not significantly different between the AD and non-AD groups in a cohort of children from Ishigaki Island, which has a subtropical climate, suggesting that FLG loss-of-function mutations are not always a predisposing factor for AD prevalence.

Keywords: Atopic dermatitis; Children cohort; FLG loss-of-function mutation; Ishigaki Island; Japanese.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Child
  • Child, Preschool
  • Cohort Studies
  • Dermatitis, Atopic / ethnology
  • Dermatitis, Atopic / genetics*
  • Female
  • Filaggrin Proteins
  • Genetic Predisposition to Disease*
  • Genotype
  • Humans
  • Immunoglobulin E / blood
  • Infant
  • Inflammation
  • Intermediate Filament Proteins / genetics*
  • Intermediate Filament Proteins / physiology*
  • Japan
  • Male
  • Mutation*
  • Odds Ratio
  • Prevalence
  • Skin / metabolism
  • Tropical Climate

Substances

  • FLG protein, human
  • Filaggrin Proteins
  • Intermediate Filament Proteins
  • Immunoglobulin E