Association screening in the Epidermal Differentiation Complex (EDC) identifies an SPRR3 repeat number variant as a risk factor for eczema.

@article{Marenholz2011AssociationSI,
  title={Association screening in the Epidermal Differentiation Complex (EDC) identifies an SPRR3 repeat number variant as a risk factor for eczema.},
  author={Ingo Marenholz and Vladimir A Gimenez Rivera and Jorge Esparza-Gordillo and Anja Bauerfeind and Min-Ae Lee-Kirsch and Andrzej Ciechanowicz and Michael P. Kurek and Tereza Pisk{\'a}{\vc}kov{\'a} and Milan Macek and Y A Lee},
  journal={The Journal of investigative dermatology},
  year={2011},
  volume={131 8},
  pages={1644-9}
}
The genetically determined impairment of the skin barrier is a primary cause of eczema. As numerous genes essential for an intact epidermis reside within the epidermal differentiation complex (EDC), we screened the National Center for Biotechnology Information (NCBI) database for putatively functional polymorphisms in the EDC genes and tested them for association with eczema. We identified 20 polymorphisms with predicted major impact on protein function. Of these, 4 were validated in 94 eczema… CONTINUE READING
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