Human Genetic Susceptibility of Leprosy Recurrence
Priscila Verchai Uaska Sartori, Gerson Oliveira Penna, Samira Bührer-Sékula, Maria Araci de Andrade Pontes, Heitor S. Gonçalves, Rossilene Conceição da Silva Cruz, Marcos Virmond, Ida Maria Foschiani Dias‐Baptista, Patrícia Sammarco Rosa, Maria Lúcia Fernandes Penna, Vinicius M. Fava, Mariane M. A. Stefani, Marcelo Távora Mira
Abstract
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.