Background: Toxoplasmosis is caused by infection with the protozoan parasite Toxoplasma gondii which has the capacity to infect all warm-blooded animals worldwide. It is estimated that 30-70percent-flag-change of the human population is infected with this parasite, and essentially the entire human population is at risk of infection. A limited number of people develop symptoms, suggesting that host susceptibility and strain disparity can play a role in the variability of clinical symptoms. Toxoplasmosis is a major cause of visual defects in the Colombian population, however, the association between genetic polymorphisms in cytokine genes and susceptibility to ocular toxoplasmosis has not been studied in this population.Methods y Materials: This work evaluates the associations between polymorphisms in genes coding for cytokines TNF-Α (rs1799964, rs1800629, rs1799724, rs1800630, rs361525); IL-1B (rs16944, rs1143634, rs1143627), IL-1Α (rs1800587); IFN-ampersand-flag-changegamma; (rs2430561); IL-10 (rs1800896, rs1800871), and the presence of ocular toxoplasmosis (OT) in a sample of Colombian population (61 patients with OT and 116 healthy controls). Genotyping was performed with the “ddNTP primer extension” technique. Functional effect predictions of SNPs were done using FuncPred.Results: Genotype distribution of all polymorphisms did not deviate significantly from the Hardy-Weinberg equilibrium. Significant higher frequencies in IL-1B, IFN-ampersand-flag-changegamma; and IL-10 polymorphisms were observed in the OT group. A polymorphism in the IL-10 gene-promoter (-1082G/A) was significantly more prevalent in OT patients than in controls (P = 1.93e-08; OR = 5.27e 03; 95percent-flag-changeCI = 3.18-8.739; pBONF = 3.48e-07). In contrast, the haplotype “AG” of the IL-10 gene promoter polymorphism (rs1800896, rs1800871) was present with lower frequency in OT patients [P = 7e-04, OR (95percent-flag-changeCI) 0.10 (0.03-0.35)]. The polymorphism ( 874 A/T) of IFN-ampersand-flag-changegamma; was associated with OT (P = 3.37e-05; OR = 4.2; 95percent-flag-changeCI = 2.478-7.12; pBONF = 6.07e-04). The haplotype “GAG” of the IL-1B gene promoter polymorphisms (rs1143634, rs1143627, rs16944), appeared to be significantly associated with OT (P = 0.0494).Conclusion: The IL-10, IFN-ampersand-flag-changegamma; and IL-1B polymorphisms influence development of OT in the Colombian population. Our study provides evidence that common genetic variants in Th1 (IL-1, IFN-ampersand-flag-changegamma;, TNF-Α) and Th2 (IL10) genes are associated with risk to develop OT in patients from Colombia.
