Association of rs۵۷۴۳۸۹۹ Polymorphism of the TOLLIP Gene With Susceptibility to Cutaneous Leishmaniasis in Southwest Iran

Introduction: Cutaneous leishmaniasis (CL) represents a vector-borne 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 rs۵۷۴۳۸۹۹ polymorphism in the TOLLIP gene with susceptibility to CL in a cohort from Khuzestan Province, Iran, where Leishmania major is endemic. Materials & Methods: The study included ۶۷ clinically confirmed patients with CL who presented with active lesions, along with ۱۰۱ healthy controls. Whole blood was obtained from the subjects, genomic DNA was extracted, and genotyping of the rs۵۷۴۳۸۹۹ polymorphism was performed using the amplification-refractory mutation system (ARMS)-PCR method. Data were analyzed using SPSS software to determine genotype frequencies and associations with CL. Results: The genotypic frequencies were consistent with the Hardy-Weinberg equilibrium in both the case and control groups. The P-values obtained for the rs۵۷۴۳۸۹۹ polymorphism were greater than ۰.۰۵, suggesting no association with susceptibility to CL (P=۰.۱۸۹ for allele frequency and P=۰.۱۳۲ 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. Conclusion: Although this study provides preliminary evidence regarding the lack of association between rs۵۷۴۳۸۹۹ and CL 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.

کلیدواژه ها:

Amplification-refractory mutation system (ARMS)- PCR ، Genetic susceptibility ، Leishmaniasis ، polymorphisms ، TOLLIP