Massively Parallel Sequencingof the Filaggrin Gene Reveals an Association Between FLG Loss-of-function Mutations and Leprosy.
Acta Derm Venereol
; 100(17): adv00299, 2020 Oct 21.
Article
en En
| MEDLINE
| ID: mdl-33047146
ABSTRACT
Filaggrin, encoded by the FLG gene, plays a crucial role in the barrier function of epidermis, but the association between FLG loss-of-function mutations and infectious skin diseases has not been systematically studied. FLG coding sequences from 945 patients with leprosy and 916 healthy controls were captured and enriched using an array-based high-throughput system, and subjected to next-generation sequencing. The loss-of-function mutations found were further validated by Sanger sequencing. A total of 21 loss-of-function mutations were found in 945 patients with leprosy, with a carrier rate of 17.53%, while the prevalence of these mutations in 916 healthy controls was 14.77%, which was significantly lower than in patients. Two individual FLG loss-of-function mutations (K4022X and Q1790X) were found to be significantly associated with leprosy. These results suggest a possible role for filaggrin in defending against leprosy pathogens.
Palabras clave
Texto completo:
1
Tema:
Complicacoes
/
Epidemiologia
/
Geral
/
Transmissao
Bases de datos:
MEDLINE
Asunto principal:
Proteínas S100
/
Lepra
Tipo de estudio:
Diagnostic_studies
/
Risk_factors_studies
Idioma:
En
Revista:
Acta Derm Venereol
Año:
2020
Tipo del documento:
Article