NRAMP1 gene polymorphisms and cutaneous leishmaniasis: An evaluation on host susceptibility and treatment outcome

Background & objectives: Association between polymorphisms in the natural resistance associated macrophage protein 1 (NRAMP1) gene and susceptibility to cutaneous leishmaniasis (CL) has been demonstrated worldwide; however, the reported results were inconsistent. This study aimed to determine the association of NRAMP1 variants with susceptibility to CL infection and patients′ response to treatment in Isfahan province of Iran. Methods: Peripheral blood samples were collected from 150 patients with CL and 136 healthy controls. The CL patients were treated with intralesional injection of meglumine antimoniate. The polymorphic variants at NRAMP1 (A318V and D543N) were analyzed using PCR-RFLP. The chi-square test and Fisher′s exact test were used to compare frequencies of alleles and genotypes of polymorphisms between patient and healthy control populations. Results: There was a statistically significant difference in the D543N (rs17235409) polymorphism between the CL patients and healthy controls (p=0.008). However, no significant association was detected for A318V (rs201565523) polymorphism between groups (p=0.26). In addition, there was a lack of association between D543N and A318V genotypes with response to treatment (p=0.54 and p=0.31, respectively). Interpretation & conclusion: The results indicated that genetic variations of D543N (rs17235409) might be associated with susceptibility to CL infection. These data may be used for detection of sensitive individuals and prevention of CL in endemic areas.