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Mayumi Ueta, Chie Sotozono, Hiromi Sawai, Katsushi Tokunaga, Shigeru Kinoshita; PTGER3 SNPs associated with Cold Medicine-Related Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis with Severe Ocular complications. Invest. Ophthalmol. Vis. Sci. 2015;56(7 ):3529.
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Stevens-Johnson syndrome (SJS) and its severe form, toxic epidermal necrolysis (TEN), are acute inflammatory vesiculobullous reactions of the skin and mucous membranes including the ocular surface, oral cavity, and genitals. These reactions are very rare but are often associated with inciting drugs and infectious agents. We previously reported that a genome-wide association study showed associations between six SNPs in the prostaglandin E receptor 3 (EP3) gene (PTGER3) and SJS/TEN with severe ocular complications (SOC). Moreover, we analyzed totally 38 SNPs of PTGER3 and found 20 SNPs of PTGER3 associated with SJS/TEN with SOC. We also reported that about 80% of our SJS/TEN patients had taken cold medicines such as multi-ingredient cold medications and NSAIDs within several days before disease onset; they were classified as CM-SJS/TEN patients. In this study, we focused on CM-SJS/TEN with SOC, and analyzed the PTGER3 SNPs.
We analyzed the 18 SNPs for which we could get functional TaqMan probes of 20 PTGER3 SNPs, which we reported to be associated with SJS/TEN with SOC, using Japanese 132 CM-SJS/TEN with SMI cases and 218 healthy controls by TaqMan SNP genotyping assay.
In Japanese, 7 of the 18 SNPs were significantly associated with CM-SJS/TEN with SOC after Bonferroni correction. Especially, one PTGER3 SNP was strongly associated with CM-SJS/TEN with SOC (rs1327464 (G vs A), OR = 0.23, p = 7.9 x 10-10).
PTGER3 gene polymorphisms might be one of the predisposition to CM-SJS/TEN with SOC.<br />
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