Factors modulating the effects of filaggrin haploinsufficiency in ichthyosis vulgaris and atopic eczema. (360G-Wellcome-086398_Z_08_Z)
Null mutations in the filaggrin gene (FLG) cause ichthyosis vulgaris and are significantly associated with atopic eczema. FLG null mutations are prevalent in the European population, with a combined allele frequency of 0.09. However, the penetrance has been estimated at between 42% and 79% in atopic eczema, demonstrating the importance of factors modulating the effects of filaggrin haploinsufficiency in skin disease. This project aims to test three hypotheses: (1) Copy number variation bot h within and around the FLG locus modulates penetrance. Assays to detect copy number variants will be developed and applied to the study of established cohorts of children with eczema. (2) FLG expression demonstrates positive and negative interactions with other genes involved in epidermal barrier function. This will be investigated using microarray technology and findings corroborated with quantitative PCR and immunoblotting. (3) FLG null mutations result in a reduced amount of epi dermal histidine, which affects response to UVB therapy. The response of eczema patients to phototherapy will be correlated with FLG null status in a retrospective pilot study, followed by a more detailed prospective study. The proposed research will improve understanding of the mechanisms by which FLG null mutations and filaggrin deficiency contribute to the pathogenesis of eczema.
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Grant Details
Amount Awarded | 560441 |
Applicant Surname | Brown |
Approval Committee | Clinical Interview Committee |
Award Date | 2008-12-04T00:00:00+00:00 |
Financial Year | 2008/09 |
Grant Programme: Title | Intermediate Clinical Fellowship |
Internal ID | 086398/Z/08/Z |
Lead Applicant | Prof Sara Brown |
Partnership Value | 560441 |
Planned Dates: End Date | 2015-06-30T00:00:00+00:00 |
Planned Dates: Start Date | 2009-07-01T00:00:00+00:00 |
Recipient Org: Country | United Kingdom |
Region | Scotland |
Sponsor(s) | Prof Irene Leigh, Prof Irwin McLean |