HLA‐B alleles associated with severe cutaneous reactions to antiepileptic drugs in Han Chinese

Abstract

SJS/TEN induced by carbamazepine and phenytoin is strongly and moderately associated with HLA-B*15:02 in Han Chinese, respectively. Possible protective associations with HLA-B*40:01 and HLA-B*58:01 warrant further investigation.

Genetic predictors of Stevens–Johnson syndrome and toxic epidermal necrolysis induced by aromatic antiepileptic drugs among the Chinese Han population

“…This result is consistent with previous studies [8,17]. We did not detect a significant association between HLA-B*15:02 and SJS/TEN induced by LTG or PB, as previously reported [11,13]. However, although there was no significant association between PHT-SJS/TEN and HLA-B*15:02 in the present study, a trend of a higher carrier rate of HLA-B*15:02 in the PHT-SJS/TEN than in the tolerant control group was reported by some other research groups [11,18].…”

“…The allele frequency of HLA-A*33:03 is 7.9% among the Japanese population and 18.3% (13/71) among our healthy control group (see Supplementary Table 3). The negative association between the HLA-B*58:01 allele and AED-induced SJS/TEN has been reported in Hong Kong [11]. The carrier rate of HLA-B*58:01 in our healthy control group (16.9%, 12/71, see Supplementary Table 3) is similar to that previously reported for the Chinese Han population (14.2%) [26].…”

“…The carrier rate of HLA-B*58:01 in our healthy control group (16.9%, 12/71, see Supplementary Table 3) is similar to that previously reported for the Chinese Han population (14.2%) [26]. Data from a previous study show that patients carrying both HLA-B*15:02 and HLA-B*58:01 can still suffer from SJS/TEN induced by CBZ [11]. In the present study, 15 patients carried the HLA-B*15:02 allele, but none of them carried the HLA-B*58:01 allele in the SJS/TEN group, while 12 patients carried the HLA-B*58:01 allele, and one of them carried the HLA-B*15:02 allele simultaneously in the tolerant control group.…”

“…In a recent study conducted in Hong Kong, the investigators demonstrated a strong and a moderate association between HLA-B*15:02 and CBZ-SJS/TEN and PHT-SJS/TEN, respectively. In addition, they found a potentially protective association between SJS/TEN and HLA-B*40:01 and HLA-B*58:01 [11]. However, their study only focused on HLA-B alleles.…”

Genetic Biomarkers in Epilepsy

“…In a prospective study with more than 4000 patients considered for treatment with CBZ in Taiwan it was shown that genetic testing completely prevents SJS and TEN when all patients carrying the HLA-B*1502 allele (7.7 %) are treated with other AEDs [92]. The association of HLA-B*1502 was also found for PHT [93], but not for LTG [94]. In the European population, an association of HLA-A*3101 was found for all hypersensitivity syndromes with CBZ treatment [95], but not with LTG or PHT [96].…”