Study of Human Leukocyte Antigen (HLA) in 13 cases of familial frontal fibrosing alopecia: CYP21A2 gene p.V281L mutation from congenital adrenal hyperplasia linked to HLA class I haplotype HLA-A*33:01; B*14:02; C*08:02 as a genetic marker.
María Librada PorriñoMiguel Ángel López-NevotJosé Aneiros-FernándezJorge Casado-RuizSusana García-LinaresSusana Pedrinacci-RodríguezElena García-LoraMaría Antonia Martín-CasaresMaría Antonia Fernández-PugnaireSalvador Arias-SantiagoPublished in: The Australasian journal of dermatology (2019)
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.
Keyphrases
- genome wide
- endothelial cells
- copy number
- end stage renal disease
- induced pluripotent stem cells
- chronic kidney disease
- interstitial lung disease
- newly diagnosed
- early onset
- dna methylation
- ejection fraction
- functional connectivity
- peritoneal dialysis
- peripheral blood
- rheumatoid arthritis
- systemic sclerosis
- patient reported outcomes
- hepatitis c virus
- idiopathic pulmonary fibrosis
- transcription factor
- high density
- hiv infected
- patient reported