Filaggrin repeat number polymorphism is associated with a dry skin phenotype
Profilaggrin is a key epidermal protein, critical for the generation and maintenance of the stratum corneum barrier. It is encoded by a gene located in the epidermal differentiation complex of Chromosome 1q21 and is composed of multiple filaggrin repeats connected by highly conserved linker peptides. Within the human population the number of filaggrin repeats encoded by this gene varies between 10, 11 or 12 repeats. Using a PCR-based approach we have determined individual profilaggrin allelotypes in a group of 113 subjects and identified preliminary evidence of an inverse association between the 12 repeat allele and self-perceived frequent dry skin (P=0.0293). This is the first demonstration of a potential association between a genetic marker and cosmetic skin condition and suggests that cosmetic skin dryness may in part be genetically determined and associated with specific profilaggrin allelotypes.
KeywordsProfilaggrin Filaggrin Skin Condition Dry Skin Polymorphism Epidermal differentiation complex
We are grateful for the continued and energetic support given to this work by Dr. Ian Scott and for his many valuable discussions on the data generated in this study. Thanks to Dr. Martin Green and Mr. Tony Dadd for helpful discussions and comments on the manuscript.
- 1.Harding CR, Scott IR (2002) Stratum corneum moisturising factors. In: Leyden J, Rawlings A, eds. Skin Moisturization. Marcel Dekker, New York, pp 61–80Google Scholar
- 4.Harding CR, Scott IR (1983) Histidine-rich proteins (filaggrins). Structural and functional heterogeneity during epidermal differentiation. J Mol Biol 170:651–673.Google Scholar
- 25.Schroeder HE (1981) Differentiation of human oral stratified epithelium. S Karger, London, pp 35–67Google Scholar