TY - JOUR
KW -  FLG
KW -  association study
KW -  filaggrin
KW -  loss-of-function mutation
KW - leprosy
AU - Shi W
AU - Mi Z
AU - Wang Z
AU - Zhang H
AU - Wang N
AU - Wang Z
AU - Zhang B
AU - Xia Q
AU - Yu Y
AU - Yu G
AU - Sun L
AU - Fu X
AU - Wang C
AU - Liu H
AU - Zhang F
AB - <p>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.</p>
BT - Acta dermato-venereologica
C1 - https://www.ncbi.nlm.nih.gov/pubmed/33047146
DA - 01/2020
DO - 10.2340/00015555-3663
J2 - Acta Derm Venereol
LA - eng
N2 - <p>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.</p>
PY - 2020
T2 - Acta dermato-venereologica
TI - Massively Parallel Sequencing of the Filaggrin Gene Reveals an Association Between FLG Loss-of-function Mutations and Leprosy
UR - https://www.medicaljournals.se/acta/content_files/files/pdf/preview/5910.pdf
SN - 1651-2057
ER -