01833nas a2200349   4500000000100000008004100001260001200042653000900054653002300063653001500086653003100101653001200132100001000144700000900154700001100163700001200174700001100186700001100197700001200208700001000220700000900230700000900239700001000248700000900258700001100267700001000278700001200288245013000300856008100430520095800511022001401469       2020                            d  c01/202010a FLG10a association study10a filaggrin10a loss-of-function mutation10aleprosy1 aShi W1 aMi Z1 aWang Z1 aZhang H1 aWang N1 aWang Z1 aZhang B1 aXia Q1 aYu Y1 aYu G1 aSun L1 aFu X1 aWang C1 aLiu H1 aZhang F00aMassively Parallel Sequencing of the Filaggrin Gene Reveals an Association Between FLG Loss-of-function Mutations and Leprosy  uhttps://www.medicaljournals.se/acta/content_files/files/pdf/preview/5910.pdf3 a<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>  a1651-2057