1. Identification of a Functional Risk Variant for Pemphigus Vulgaris in the ST18 Gene.
- Author
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Dan Vodo, Ofer Sarig, Shamir Geller, Edna Ben-Asher, Tsviya Olender, Ron Bochner, Ilan Goldberg, Judith Nosgorodsky, Anna Alkelai, Pavel Tatarskyy, Alon Peled, Sharon Baum, Aviv Barzilai, Saleh M Ibrahim, Detlef Zillikens, Doron Lancet, and Eli Sprecher
- Subjects
Genetics ,QH426-470 - Abstract
Pemphigus vulgaris (PV) is a life-threatening autoimmune mucocutaneous blistering disease caused by disruption of intercellular adhesion due to auto-antibodies directed against epithelial components. Treatment is limited to immunosuppressive agents, which are associated with serious adverse effects. The propensity to develop the disease is in part genetically determined. We therefore reasoned that the delineation of PV genetic basis may point to novel therapeutic strategies. Using a genome-wide association approach, we recently found that genetic variants in the vicinity of the ST18 gene confer a significant risk for the disease. Here, using targeted deep sequencing, we identified a PV-associated variant residing within the ST18 promoter region (p
- Published
- 2016
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