Pioneering Research to Elucidate the Pathogenic Mechanism and Genetic Susceptibility of Stevens Johnson Syndrome/Toxic Epidermal Necrolysis

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The purpose of this present study was to perform a Genome-Wide Association Study (GWAS) in order to elucidate in greater detail the pathophysiology of Stevens Johnson Syndrome/Toxic Epidermal Necrolysis (SJS/TEN) with severe ocular surface complications. Our GWAS findings revealed 6 single-nucleotide polymorphisms (SNPs) (rs17131450, rs5702, rs1325949, rs7543182, rs7555874, and rs4147114) in prostaglandin E receptor 3 (EP3) that are significantly associated with SJS/TEN. When we looked for the expression of EP3 in the conjunctival epithelium of SJS/TEN patients with severe ocular surface complications, we did not find EP3 protein. On the other hand, the EP3 protein was present in the conjunctival epithelium of the control patients with conjunctivochalasis or pterygium. Moreover, we found a variable with SJS genetic susceptibility effects involved in the locus-pairs of genes PTGER3-TLR3 and HLA-A*0206-TLR3.