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HLA ‐A*02:06 and PTGER 3 polymorphism exerts additive effects in cold medicine‐related Stevens‐Johnson syndrome with severe ocular complications in Japanese and Korean populations
Author(s) -
Ueta M.,
Tokunaga K.,
Sotozono C.,
Sawai H.,
Yoon K.C.,
Kim M.K.,
Seo K.Y.,
Joo C.K.,
Kinoshita S.
Publication year - 2015
Publication title -
acta ophthalmologica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.534
H-Index - 87
eISSN - 1755-3768
pISSN - 1755-375X
DOI - 10.1111/j.1755-3768.2015.0297
Subject(s) - genotyping , single nucleotide polymorphism , medicine , snp genotyping , genotype , human leukocyte antigen , toxic epidermal necrolysis , snp , taqman , immunology , real time polymerase chain reaction , dermatology , gene , biology , genetics , antigen
Purpose We reported that PTGER 3 SNP s were associated with Stevens‐Johnson syndrome ( SJS )/toxic epidermal necrolysis ( TEN ) with severe ocular complications ( SOC ). We also reported that about 80% of our SJS / TEN patients had taken cold medicines within several days before disease onset and designated them cold medicine related‐ SJS / TEN ( CM ‐ SJS / TEN ) patients, and that HLA ‐A*02:06 was significantly associated with CM ‐ SJS / TEN in Japanese and Korean populations. Moreover, we documented that HLA ‐A*02:06 with TLR 3 polymorphisms exerted more than additive effects in SJS / TEN with SOC . In the current study we focused on CM ‐ SJS / TEN with SOC and analyzed an interactive effect between PTGER 3 SNP s and HLA ‐A*02:06 in Japanese and Korean populations. Methods Samples from 132 Japanese patients with CM ‐ SJS / TEN with SOC were collected and 221 healthy Japanese volunteers were also recruited as controls. Samples from 30 Korean patients with CM ‐ SJS / TEN with SOC were collected and 120 healthy Korean volunteers were also recruited as controls. Genotyping of PTGER 3 gene SNP s was performed using the TaqMan SNP genotyping assay or the DigiTag2 assay. HLA ‐A genotyping was performed using using commercial bead‐based typing kits, WAK Flow. Results In Japanese population, we found an interaction with additive effects between HLA ‐A*02:06 and the high‐risk genotypes PTGER 3 rs1327464 GA or AA ( OR = 10.8, p = 2.56 × 10 −7 ). Moreover, we also found an additive effect between HLA ‐A*02:06 and the high‐risk genotypes PTGER 3 rs1327464 GA or AA ( OR = 14.2, p = 5.58 × 10 −6 ). Conclusions These finding might show that the combination of these two polymorphisms could give improvements for a genetic testing as compared to using only one susceptibility gene.