Study of Human Leukocyte Antigen ( HLA HLA ) in 13 cases of familial frontal fibrosing alopecia: CYP 21A2 CYP CYP 21A2 gene p.V281L mutation from congenital adrenal hyperplasia linked to HLA HLA class I haplotype HLA HLA HLA ‐ A*33:01 A*33:01 ; B*14:02; C*08:02 B*14:02; C*08:02 as a genetic marker

摘要

Abstract Background/Objectives The aetiology of frontal fibrosing alopecia is unknown, and its genetic aspect remains uncharacterised. The aim of this report is to elucidate if major histocompatibility complex is associated with familial frontal fibrosing alopecia. Methods A case–control study was performed of 13 patients with frontal fibrosing alopecia belonging to six families. Their human leukocyte antigen profiles were compared to the data of 636 healthy controls without frontal fibrosing alopecia. Patients underwent high‐resolution genomic typing for human leukocyte antigen class I and II loci by PCR ‐ SSO for Luminex. In addition, CYP 21A2 gene (major histocompatibility complex class III ) mutations were detected by PCR ‐ SSO on strips. Results 61.5% of patients shared CYP 21A2 gene p.V281L linked to the F16A human leukocyte antigen class I haplotype ( HLA ‐A*33:01; B*14:02; C*08:02; P c??0.000001). The patients F16A‐negative shared other human leukocyte antigen class I haplotypes: Y16A (3/13) and S26 (2/13). Conclusion CYP 21A2 gene p.V281L mutation can be used as a genetic marker for susceptibility to familial frontal fibrosing alopecia. Both the linkage of the mutation to F16A and the fact that F16A‐negative patients share other human leukocyte antigen class I haplotype, point to an antigen‐driven mechanism in susceptible patients with these haplotypes.