@article{94570,
  keywords = { FLG,  association study,  filaggrin,  loss-of-function mutation, leprosy},
  author = {Shi W and Mi Z and Wang Z and Zhang H and Wang N and Wang Z and Zhang B and Xia Q and Yu Y and Yu G and Sun L and Fu X and Wang C and Liu H and Zhang F},
  title = {Massively Parallel Sequencing of the Filaggrin Gene Reveals an Association Between FLG Loss-of-function Mutations and Leprosy},
  abstract = {<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>},
  year = {2020},
  journal = {Acta dermato-venereologica},
  month = {01/2020},
  issn = {1651-2057},
  url = {https://www.medicaljournals.se/acta/content_files/files/pdf/preview/5910.pdf},
  doi = {10.2340/00015555-3663},
  language = {eng},
}