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Filaggrin null alleles are not associated with psoriasis.

Abstract
Psoriasis is a common skin disease with an etiology consistent with a multifactorial trait. Several psoriasis susceptibility loci are known, a number of which are also implicated in a predisposition to atopic dermatitis (AD), including the epidermal differentiation complex on chromosome 1q21. It has recently been shown in several replicate studies that prevalent null alleles for the filaggrin gene (FLG) on 1q21 are an important genetic factor in AD. Here, we examined the role of these FLG variants in psoriasis using case:control association studies comparing Irish and UK psoriasis cohorts (combined n=691) to ethnically matched populations (combined n=2117). No association was present for the two common European FLG mutations R501X and 2282del4 (combined chi2 P=0.989). In addition, the 3' end of the FLG open-reading frame was sequenced in a number of patients with differing types of psoriasis (plaque, guttate, palmoplantar, and late-onset), which excluded the possibility of a gain-of-function frameshift mutation such as those found in loricrin or certain keratin genes. These data suggest that FLG mutations are unlikely to be involved in genetic susceptibility to psoriasis and implies that there may be within-locus heterogeneity in chromosomal regions involved in both AD and psoriasis.
AuthorsYiwei Zhao, Ana Terron-Kwiatkowski, Haihui Liao, Simon P Lee, Michael H Allen, Peter R Hull, Linda E Campbell, Richard C Trembath, Francesca Capon, Christopher E M Griffiths, David Burden, Ross McManus, Rosalind Hughes, Brian Kirby, Sarah F Rogers, Oliver Fitzgerald, David Kane, Jonathan N W N Barker, Colin N A Palmer, Alan D Irvine, W H Irwin McLean
JournalThe Journal of investigative dermatology (J Invest Dermatol) Vol. 127 Issue 8 Pg. 1878-82 (Aug 2007) ISSN: 1523-1747 [Electronic] United States
PMID17410197 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
Chemical References
  • FLG protein, human
  • Filaggrin Proteins
  • Intermediate Filament Proteins
Topics
  • Adult
  • Dermatitis, Atopic (genetics)
  • Filaggrin Proteins
  • Genetic Predisposition to Disease
  • Humans
  • Intermediate Filament Proteins (genetics)
  • Psoriasis (genetics)

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