Unique motif shared by HLA‐B*59:01 and HLA‐B*55:02 is associated with methazolamide‐induced Stevens–Johnson syndrome and toxic epidermal necrolysis in Han Chinese

Abstract

This study confirmed the association of HLA-B*59:01 with MTZ-SJS/TEN and identified HLA-B*55:02 as a novel risk allele in Han Chinese with the largest sample size to date. Notably, the rs41562914(A)-rs12697944(A) haplotype, encoding E45-L116, is capable of serving as a powerful genetic predictor for MTZ-SJS/TEN with a sensitivity of 89% and specificity of 96%.