PMID- 30155467 OWN - NLM STAT- PubMed-not-MEDLINE LR - 20200929 IS - 2296-858X (Print) IS - 2296-858X (Electronic) IS - 2296-858X (Linking) VI - 5 DP - 2018 TI - The Genetics of Pemphigus Vulgaris. PG - 226 LID - 10.3389/fmed.2018.00226 [doi] LID - 226 AB - Pemphigus vulgaris (PV) is a severe autoimmune blistering disease caused by auto-antibodies (auto-Abs) directed against epithelial desmosomal components and leading to disruption of cell-cell adhesion. The exact mechanisms underlying the disease pathogenesis remain unknown and treatment is still based on immunosuppressive drugs, such as corticosteroids, which are associated with potentially significant side effects. Ethnic susceptibility, familial occurrence, and autoimmune comorbidity, suggest a genetic component to the pathogenesis of the disease, which, if discovered, could advance our understanding of PV pathogenesis and thereby point to novel therapeutic targets for this life-threatening disorder. In this article, we review the evidence for a genetic basis of PV, summarize the different approaches used to investigate susceptibility traits for the disease and describe past and recent discoveries regarding genes associated with PV, most of which belong to the human leukocyte antigen (HLA) locus with limited data regarding association of non-HLA genes with the disease. FAU - Vodo, Dan AU - Vodo D AD - Department of Dermatology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel. AD - Department of Human Molecular Genetics and Biochemistry, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel. FAU - Sarig, Ofer AU - Sarig O AD - Department of Human Molecular Genetics and Biochemistry, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel. FAU - Sprecher, Eli AU - Sprecher E AD - Department of Dermatology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel. AD - Department of Human Molecular Genetics and Biochemistry, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel. LA - eng PT - Journal Article PT - Review DEP - 20180814 PL - Switzerland TA - Front Med (Lausanne) JT - Frontiers in medicine JID - 101648047 PMC - PMC6102399 OTO - NOTNLM OT - HLA OT - autoimmunity OT - blistering disorders OT - genetics OT - pemphigus EDAT- 2018/08/30 06:00 MHDA- 2018/08/30 06:01 PMCR- 2018/08/14 CRDT- 2018/08/30 06:00 PHST- 2018/06/01 00:00 [received] PHST- 2018/07/25 00:00 [accepted] PHST- 2018/08/30 06:00 [entrez] PHST- 2018/08/30 06:00 [pubmed] PHST- 2018/08/30 06:01 [medline] PHST- 2018/08/14 00:00 [pmc-release] AID - 10.3389/fmed.2018.00226 [doi] PST - epublish SO - Front Med (Lausanne). 2018 Aug 14;5:226. doi: 10.3389/fmed.2018.00226. eCollection 2018.