01756nas a2200289 4500000000100000008004100001260001200042100001400054700001200068700002200080700001400102700001700116700001100133700001400144700002300158700001100181700001200192700001100204700001400215700001200229245005600241856005500297300000900352490000700361520108400368022001401452 2020 d c01/20201 aSartori P1 aPenna G1 aBührer-Sékula S1 aPontes MA1 aGonçalves H1 aCruz R1 aVirmond M1 aDias-Baptista IM F1 aRosa P1 aPenna M1 aFava V1 aStefani M1 aMira MT00aHuman Genetic Susceptibility of Leprosy Recurrence. uhttps://www.nature.com/articles/s41598-020-58079-3 a12840 v103 a

Host genetic susceptibility to leprosy has been intensively investigated over the last decades; however, there are no studies on the role of genetic variants in disease recurrence. A previous initiative identified three recurrent cases of leprosy for which none of the M. leprae strains, as obtained in the first and the second diagnosis, had any known genomic variants associated to resistance to Multidrug therapy; in addition, whole genome sequencing indicated that the same M. leprae was causing two out of the three recurrences. Thus, these individuals were suspected of being particularly susceptible to M. leprae infection, either as relapse or reinfection. To verify this hypothesis, 19 genetic markers distributed across 11 loci (14 genes) classically associated with leprosy were genotyped in the recurrent and in three matching non-recurrent leprosy cases. An enrichment of risk alleles was observed in the recurrent cases, suggesting the existence of a particularly high susceptibility genetic profile among leprosy patients predisposing to disease recurrence.

 a2045-2322