Association of rs5743899 Polymorphism of TOLLIP Gene With Susceptibility to Cutaneous Leishmaniasis in Southwest Iran

Ghasemi, Ezatollah; Zohourmesgar, Fatemeh; Mashayekhi, Amir

doi:10.22092/ari.2025.370157.3756

Association of rs5743899 Polymorphism of TOLLIP Gene With Susceptibility to Cutaneous Leishmaniasis in Southwest Iran

Articles in Press

Document Type : Original Articles

Authors

¹ Infectious and Tropical Diseases Research Center, Dezful University of Medical Sciences, Dezful, Iran

² Student Research Committee, Dezful University of Medical Sciences, Dezful, Iran

10.22092/ari.2025.370157.3756

Abstract

Cutaneous leishmaniasis (CL) represents a vector-transmitted infection resulting from various species of Leishmania. Host genetic factors, such as polymorphisms in immune-related genes, influence susceptibility to CL. The TOLLIP gene, a regulator of innate immunity, has been linked to various infectious diseases. This study investigates the association of the rs5743899 polymorphism in the TOLLIP gene with predisposition to CL in a cohort from Khuzestan province, Iran, where Leishmania major is endemic. The study included 67 clinically confirmed patients with cutaneous leishmaniasis who presented with active lesions, along with 101 healthy controls. Whole Blood was obtained from the subjects, and genomic DNA was extracted, and genotyping of the rs5743899 polymorphism was performed using the ARMS-PCR method. Data were analyzed using SPSS software to determine genotype frequencies and associations with CL. The genotypic frequencies were consistent with the Hardy-Weinberg equilibrium in both the case and control groups. The P-values obtained for the rs5743899 polymorphism were greater than 0.05, suggesting no association with susceptibility to CL (p = 0.189 for allele frequency and p = 0.132 for genotype frequency). Furthermore, the Odds Ratio analysis demonstrated that the presence of TT, CT, and CC genotypes did not increase the risk of developing CL. Although this study provides preliminary evidence regarding the lack of association between rs5743899 and cutaneous leishmaniasis in the studied population, the relatively small sample size may have limited the detection of modest genetic effects. Therefore, larger multicenter studies are recommended to validate these results. While these findings clarify aspects of the disease's genetic background, they also point to the need for further research into other genetic and environmental contributors to its epidemiology.

Keywords