Low Frequency of HLA-B*15:02 in Northwest China: Implications for Carbamazepine-Induced Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Screening Strategies.
Wang Xu X, Yang Ping P, Rao Feng F, Wang Longnan L et al.
HLA-B*15:02 is an important genetic marker for predicting carbamazepine (CBZ)-induced Stevens-Johnson Syndrome (SJS)/Toxic Epidermal Necrolysis (TEN) in Asian populations. This descriptive pooled analysis aimed to characterize HLA-B*15:02 distribution in Northwest China and inform regional screening strategies. We genotyped HLA-B*15:02 via next-generation sequencing (NGS) in 98 healthy volunteers from Ningxia, and combined these data with 11 previously published studies (total N=3400) from Northwest China. Weighted means, medians, and interquartile ranges (IQR) were calculated by region and ethnicity, with Pearson's chi‑square tests for group comparisons (significance threshold: P < 0.05). The overall HLA-B*15:02 frequency was 1.81% (range: 0.00%-3.30%; IQR: 0.24-1.97%). Regional weighted frequencies were 2.12% (Qinghai), 1.98% (Shaanxi), 1.02% (Ningxia), and 0.38% (Xinjiang); ethnic frequencies ranged from 0% (Kazakh) to 2.28% (Hui). No significant regional (χ2 = 7.60, P = 0.055) or ethnic (χ2 = 7.35, P = 0.119) differences were observed, nor was there a significant difference between Han and other ethnic groups (P = 0.074). The overall frequency of HLA-B*15:02 in Northwest China is 1.81%, substantially lower than in South China, suggesting a lower expected yield of routine screening in this region.