Pregled bibliografske jedinice broj: 686522
AMAXHOSA PATIENTS WITH ATOPIC DERMATITIS HAVE DECREASED LEVELS OF FILAGGRIN BREAKDOWN PRODUCTS BUT NO LOSS‐OF‐ FUNCTION MUTATIONS IN FILAGGRIN
AMAXHOSA PATIENTS WITH ATOPIC DERMATITIS HAVE DECREASED LEVELS OF FILAGGRIN BREAKDOWN PRODUCTS BUT NO LOSS‐OF‐ FUNCTION MUTATIONS IN FILAGGRIN // SKINBAD Final conference
Kopenhagen, Danska, 2013. (predavanje, međunarodna recenzija, sažetak, znanstveni)
CROSBI ID: 686522 Za ispravke kontaktirajte CROSBI podršku putem web obrasca
Naslov
AMAXHOSA PATIENTS WITH ATOPIC DERMATITIS HAVE DECREASED LEVELS OF FILAGGRIN BREAKDOWN PRODUCTS BUT NO LOSS‐OF‐ FUNCTION MUTATIONS IN FILAGGRIN
Autori
F Thawer‐Esmail, K Dladla, I Jakasa, G Todd, Y Wen, SJ Brown, K Kroboth, LE Campbell, GM O’Regan, WHI McLean, AD Irvine, S Kezic, A Sandilands
Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, znanstveni
Skup
SKINBAD Final conference
Mjesto i datum
Kopenhagen, Danska, 14.11.2013. - 15.11.2013
Vrsta sudjelovanja
Predavanje
Vrsta recenzije
Međunarodna recenzija
Ključne riječi
atopic dermatitis; filaggrin; stratum corneum
Sažetak
Filaggrin (FLG) loss‐of‐function (LOF) mutations are the strongest genetic risk factors for atopic dermatitis (AD). The genetic architecture of FLG mutations is well established in European and Chinese populations but their role in the African population is not well understood. Filaggrin expression is known to be secondarily decreased in AD, independent of FLG mutations. We sought to identify the role of FLG mutations in AD in the amaXhosa population and to characterise levels of filaggrin breakdown products in the skin of these patients. In Cape Town, South Africa we studied 69 children with AD along with 81 controls that were age‐, ethnic‐ and sex‐matched. FLG was fully sequenced in 26 AD children with strong features of ichthyosis vulgaris. The entire collection was typed for several known FLG mutations. Stratum corneum filaggrin breakdown products were determined by HPLC analysis in all cases and controls. No FLG LOF mutations were identified in the amaXhosa AD patients. Filaggrin breakdown products were significantly decreased in patients compared to controls but not by the order of magnitude associated with FLG loss‐of‐function mutations. FLG mutations are not a major contributor to AD in the amaXhosa population. Filaggrin expression is secondarily downregulated in these patients. Taken together with prior FLG studies, it appears that FLG loss‐of‐function mutations have a very limited role in Africans. This work suggests significant genetic heterogeneity in AD between African populations and Asian and European populations.
Izvorni jezik
Engleski
