Filaggrin mutations in a Western siberian population and their association with atopic dermatitis in children

Genet Test Mol Biomarkers. 2014 Dec;18(12):791-6. doi: 10.1089/gtmb.2014.0247.

Abstract

We determined the frequencies of null mutations of the FLG gene--2282del4, R501X, R2447X, 3702delG, S3247X, and the 12-repeat allele (rs12730241)--among 460 Caucasians of the city of Novosibirsk, Russia. The frequency was 17.7% for rs12730241, 2.73% for 2282del4, 0.22% for R501X, 0.33% for R2447X, and 0% for 3702delG and S3247X in a western Siberian population. A case-control study showed that the deletion 2282del4 was associated with atopic dermatitis in children (odds ratio 7.01; p<0.001). The other mutations were not.

Publication types

  • Randomized Controlled Trial

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Base Sequence*
  • Case-Control Studies
  • Child
  • Child, Preschool
  • Dermatitis, Atopic / epidemiology
  • Dermatitis, Atopic / genetics*
  • Female
  • Filaggrin Proteins
  • Humans
  • Infant
  • Intermediate Filament Proteins / genetics*
  • Male
  • Middle Aged
  • Sequence Deletion*
  • Siberia / epidemiology

Substances

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