HLA-B*58:01 and rs9263726 have a linkage, but not absolute linkage disequilibrium in Han Chinese population.

HLA-B*58:01 has been demonstrated to be associated with allopurinol-induced severe cutaneous adverse reactions. Since HLA-B*58:01 is too complicated to be identified, it is necessary to select an appropriate surrogate biomarker. In Japan, the rs9263726 allele was considered as a surrogate biomarker for HLA-B*58:01, but this was not the case with the Australian cohort. Due to the conflict results, in this study, we aim to demonstrate whether the rs9263726 allele is a surrogate biomarker for HLA-B*58:01 in Han Chinese population. A total of 353 samples (200 cases from the south and 153 cases from the north) were selected to detect HLA-B*58:01 and rs9263726 allele. The HLA-B*58:01 was identified by sequencing-based method, and the rs9263726 allele was identified by Taqman SNP Genotyping Assays. The results showed that the two alleles had a linkage, but not absolute linkage disequilibrium in Han Chinese population.