Chromosome 2q33genetic polymorphisms in Tunisian endemic pemphigus foliaceus

BACKGROUND: Several studies have suggested that polymorphisms within genes encoding T‐lymphocyte immune regulating molecules: CD28, CTLA‐4, and ICOS, may alter the signaling process and subsequently could be involved in susceptibility to a broad spectrum of autoimmune diseases. METHODS: This study aimed to replicate associations between common polymorphisms in the 2q33.2 cluster and susceptibility to pemphigus foliaceus (PF) in the Tunisian population. We investigated seven polymorphisms: rs3116496 and rs1879877 (CD28), rs231775, rs3087243, and (AT)(n) repeat (CTLA4); rs11889031 and rs10932029 (ICOS) in a case–control study which enrolled 106 Tunisian PF patients and 205 matched healthy controls. RESULTS: We confirmed the associations with CTLA4((AT)(13), p = 0.00137, OR = 3.96 and (AT)(20), p = 0.008, OR = 5.22; respectively) and ICOS genes (rs10932029>CT, p = 0.034, OR = 2.12 and rs10932029>TT, p = 0.04 and OR = 0.41). CONCLUSION: Our results indicate that susceptibility to PF is located in the proximal and the distal 3′ flanking region of the CTLA4/ICOS promoter. These findings may open avenues to the treatment of patients with biological drugs targeting CTLA4/ICOS molecules, in a personalized manner to achieve more effective treatment.