rs114908185 - MUC22

Magnitude 4.5 · 1 study on file

Reported associations

• Unique motif shared by HLA-B59:01 and HLA-B55:02 is associated with methazolamide-induced Stevens-Johnson syndrome and toxic epidermal necrolysis in Han Chinese. - Journal of the European Academy of Dermatology and Venereology : JEADV (2022) · Jiang M, Yang F, Zhang L, Xu D, Jia Y, Cheng Y, Han S, Wang T, Chen Z, Su Y, Zhu Z, Chen S, Zhang J, Wang L, Yang L, Yang J, Luo X, Xing Q · PubMed 35122707

  Methazolamide (MTZ) has been occasionally linked to the lethal Stevens-Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN), which are associated with HLA-B59:01. However, some MTZ-induced SJS/TEN (MTZ-SJS/TEN) cases are negative for HLA-B59:01, implying that other genetic factors besides HLA-B*59:01 are contributing to MTZ-SJS/TEN. To comprehensively identify HLA and non-HLA genetic susceptibility to MTZ-SJS/TEN in Han Chinese. Eighteen patients with MTZ-SJS/TEN, 806 subjects of the population control and 74 MTZ-tolerant individuals were enrolled in this study. Both exome-wide and HLA-based association studies were conducted. Molecular docking analysis was employed to simulate the interactions between MTZ and risk HLA proteins. We found a strong signal in the major histocompatibi

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