Premium
The tight junction gene Claudin‐1 is associated with atopic dermatitis among Ethiopians
Author(s) -
Asad S.,
Winge M.C.G.,
Wahlgren C.F.,
Bilcha K.D.,
Nordenskjöld M.,
Taylan F.,
Bradley M.
Publication year - 2016
Publication title -
journal of the european academy of dermatology and venereology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.655
H-Index - 107
eISSN - 1468-3083
pISSN - 0926-9959
DOI - 10.1111/jdv.13806
Subject(s) - filaggrin , atopic dermatitis , single nucleotide polymorphism , genotyping , medicine , genetics , population , disease , exome sequencing , snp , genetic association , gene , biology , genotype , immunology , pathology , mutation , environmental health
Background The strong association between epidermal barrier gene variants and Atopic Dermatitis ( AD ) highlights that impaired skin barrier is a key feature in the pathogenesis of AD . Although the filaggrin ( FLG ) gene is the major AD risk gene in European and Asian populations, disease‐associated variants remain elusive in African populations. Objective A previous study has reported that variants in the tight junction gene CLDN 1 have been associated with AD susceptibility and disease severity in African‐Americans. Our aim was therefore to investigate the association of CLDN 1 with AD in the Ethiopian population. Methods To investigate how CLDN 1 variants may be involved in increasing the risk of AD in the Ethiopian population, we analysed whole exome sequencing (WES) data for all exons in CLDN 1 , and in addition, assayed four SNP s ( rs17501010, rs9290927, rs9290929 and rs893051 ) which had previously showed association in African‐American AD patients. Results No damaging variants were detected through WES in 22 Ethiopian samples. Genotyping of disease‐associated CLDN 1 SNP s in Ethiopian cases and control material showed no overall association. However, significant association was seen for rs893051 in patients who developed AD before the age of 5 years ( P < 0.03).Conclusion Taken together, we demonstrate that tight junction genes and, in particular, CLDN 1 rather than variants in FLG may be involved in the susceptibility of AD in the Ethiopian population.