María Librada Porriño-Bustamante1,2, Miguel Ángel López-Nevot3,4, José Aneiros-Fernández5, Jorge Casado-Ruiz4, Susana García-Linares6, Susana Pedrinacci-Rodríguez6, Elena García-Lora7, María Antonia Martín-Casares3, María Antonia Fernández-Pugnaire8, Salvador Arias-Santiago7,9. 1. Servicio de Dermatología, Hospital Universitario La Zarzuela, Madrid, Spain. 2. Universidad de Granada, Granada, Spain. 3. Laboratorio Clínico, Unidad de Histocompatibilidad, Hospital Universitario Virgen de las Nieves, Granada, Spain. 4. Departamento de Bioquímica, Biología Molecular III e Inmunología, Universidad de Granada, Granada, Spain. 5. Servicio de Anatomía Patológica, Parque Tecnológico de Ciencias de la Salud, Granada, Spain. 6. Unidad de Genética Clínica, Laboratorio Clínico, Hospital Universitario Virgen de las Nieves, Hospital Universitario Virgen de las Nieves, Granada, Spain. 7. Servicio de Dermatología, Hospital Universitario Virgen de las Nieves, Granada, Spain. 8. Servicio de Dermatología, Parque Tecnológico de Ciencias de la Salud, Granada, Spain. 9. Facultad de Medicina, Universidad de Granada, Granada, Spain.
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, CYP21A2 gene (major histocompatibility complex class III) mutations were detected by PCR-SSO on strips. RESULTS: 61.5% of patients shared CYP21A2 gene p.V281L linked to the F16A human leukocyte antigen class I haplotype (HLA-A*33:01; B*14:02; C*08:02; Pc < 0.000001). The patients F16A-negative shared other human leukocyte antigen class I haplotypes: Y16A (3/13) and S26 (2/13). CONCLUSION: CYP21A2 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.
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, CYP21A2 gene (major histocompatibility complex class III) mutations were detected by PCR-SSO on strips. RESULTS: 61.5% of patients shared CYP21A2 gene p.V281L linked to the F16A human leukocyte antigen class I haplotype (HLA-A*33:01; B*14:02; C*08:02; Pc < 0.000001). The patients F16A-negative shared other human leukocyte antigen class I haplotypes: Y16A (3/13) and S26 (2/13). CONCLUSION:CYP21A2 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.
Authors: María Librada Porriño-Bustamante; María Antonia Fernández-Pugnaire; Salvador Arias-Santiago Journal: J Clin Med Date: 2021-04-21 Impact factor: 4.241