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Filaggrin null alleles are not associated with psoriasis
Yiwei Zhao1, Ana Terron-Kwiatkowski, Haihui Liao
1Epithelial Genetics Group, Human Genetics Unit, Division of Pathology and Neuroscience, University of Dundee, Ninewells Hospital and Medical School, Dundee, UK.
The Journal of Investigative Dermatology
|April 6, 2007
Summary
Filaggrin gene (FLG) mutations are not associated with psoriasis susceptibility. This suggests that genetic factors for atopic dermatitis (AD) may differ from those for psoriasis, even in shared chromosomal regions.
Area of Science:
- Genetics
- Dermatology
- Immunology
Background:
- Psoriasis and atopic dermatitis (AD) are common skin conditions with complex genetic underpinnings.
- Shared genetic loci, such as the epidermal differentiation complex on chromosome 1q21, are implicated in both diseases.
- Null alleles in the filaggrin gene (FLG) are a known risk factor for AD.
Purpose of the Study:
- To investigate the association between FLG variants and psoriasis susceptibility.
- To determine if FLG mutations contribute to the genetic predisposition to psoriasis.
Main Methods:
- Case-control association studies were conducted using Irish and UK psoriasis cohorts.
- Genotyping for common European FLG mutations (R501X and 2282del4) was performed.
- Sequencing of the FLG gene's 3' end was carried out in psoriasis patients.
Main Results:
- No significant association was found between common FLG mutations (R501X, 2282del4) and psoriasis (chi2 P=0.989).
- Sequencing excluded gain-of-function frameshift mutations in the FLG gene in various psoriasis types.
- These findings indicate FLG mutations do not play a role in psoriasis genetic susceptibility.
Conclusions:
- FLG mutations are unlikely to be a significant factor in the genetic susceptibility to psoriasis.
- The study suggests potential locus heterogeneity within chromosomal regions associated with both AD and psoriasis.
- Further research is needed to elucidate the distinct genetic factors contributing to each condition.
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