Los polimorfismos de IL-10, IFN-? e IL-1? influyen en el desarrollo de OT en una población colombiana

Antecedentes: la toxoplasmosis es causada por una infección con el parásito protozoario Toxoplasma gondii, que tiene la capacidad de infectar a todos los animales de sangre caliente en todo el mundo. Se estima que el 30-70% de la población humana está infectada con este parásito, y esencialmente toda la población humana está en riesgo de infección. Un número limitado de personas desarrolla síntomas, lo que sugiere que la susceptibilidad del huésped y la disparidad de tensión pueden desempeñar un papel en la variabilidad de los síntomas clínicos. La toxoplasmosis es una causa importante de defectos visuales en la población colombiana, sin embargo, la asociación entre polimorfismos genéticos en los genes de citoquinas y la susceptibilidad a la toxoplasmosis ocular no se ha estudiado en esta población. Métodos y materiales: este trabajo evalúa las asociaciones entre polimorfismos en los genes que codifican las citoquinas TNF-? (rs1799964, rs1800629, rs1799724, rs1800630, rs361525); IL-1? (rs16944, rs1143634, rs1143627), IL-1? (rs1800587); IFN-? (rs2430561); IL-10 (rs1800896, rs1800871) y la presencia de toxoplasmosis ocular (OT) en una muestra de población colombiana (61 pacientes con OT y 116 controles sanos). El genotipado se realizó con la técnica ddNTP primer extension. Las predicciones del efecto funcional de los SNP se realizaron con FuncPred. Resultados:La distribución del genotipo de todos los polimorfismos no se desvió significativamente del equilibrio de Hardy-Weinberg. Se observaron frecuencias significativamente mayores en polimorfismos de IL-1?, IFN-? e IL-10 en el grupo OT. Un polimorfismo en el promotor del gen IL-10 (-1082G / A) fue significativamente más prevalente en pacientes OT que en los controles (P = 1.93e-08; OR = 5.27e + 03; IC 95% = 3.18-8.739; pBONF = 3.48e-07). En contraste, el haplotipo AG del polimorfismo promotor del gen IL-10 (rs1800896, rs1800871) estuvo presente con menor frecuencia en pacientes con OT [P = 7e-04, OR (IC 95%) 0.10 (0.03-0.35)]. El polimorfismo (+ 874 A / T) de IFN-? se asoció con OT (P = 3.37e-05; OR = 4.2; IC 95% = 2.478-7.12; pBONF = 6.07e-04). El haplotipo GAG de los polimorfismos del promotor del gen IL-1? (rs1143634, rs1143627, rs16944), Conclusión: Los polimorfismos de IL-10, IFN-? e IL-1? influyen en el desarrollo de OT en la población colombiana. Nuestro estudio proporciona evidencia de que las variantes genéticas comunes en los genes Th1 (IL-1, IFN-?, TNF-?) y Th2 (IL10) están asociadas con el riesgo de desarrollar OT en pacientes de Colombia.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 30-70% 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 & Materials: This work evaluates the associations between polymorphisms in genes coding for cytokines TNF-? (rs1799964, rs1800629, rs1799724, rs1800630, rs361525); IL-1? (rs16944, rs1143634, rs1143627), IL-1? (rs1800587); IFN-? (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-1?, IFN-? 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; 95%CI?=?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 (95%CI) 0.10 (0.03-0.35)]. The polymorphism (+ 874 A/T) of IFN-? was associated with OT (P?=?3.37e-05; OR?=?4.2; 95%CI?=?2.478-7.12; pBONF?=?6.07e-04). The haplotype “GAG” of the IL-1? gene promoter polymorphisms (rs1143634, rs1143627, rs16944), appeared to be significantly associated with OT (P?=?0.0494). Conclusion: The IL-10, IFN-? and IL-1? polymorphisms influence development of OT in the Colombian population. Our study provides evidence that common genetic variants in Th1 (IL-1, IFN-?, TNF-?) and Th2 (IL10) genes are associated with risk to develop OT in patients from Colombia

Genetic polymorphisms in cytokine genes in colombian patients with ocular toxoplasmosis

"Toxoplasmosis is caused by infection with the protozoan parasite Toxoplasma gondii, which has the capacity to infect all warm-blooded animals worldwide. 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. This work evaluates the associations between polymorphisms in genes coding for the cytokines tumor necrosis factor alpha (TNF-?) (rs1799964, rs1800629, rs1799724, rs1800630, and rs361525), interleukin 1? (IL-1?) (rs16944, rs1143634, and rs1143627), IL-1? (rs1800587), gamma interferon (IFN-?) (rs2430561), and IL-10 (rs1800896 and rs1800871) and the presence of ocular toxoplasmosis (OT) in a sample of a Colombian population (61 patients with OT and 116 healthy controls). Genotyping was performed with the ""dideoxynucleotide (ddNTP) primer extension"" technique. Functional-effect predictions of single nucleotide polymorphisms (SNPs) were done by using FuncPred. A polymorphism in the IL-10 gene promoter (-1082G/A) was significantly more prevalent in OT patients than in controls (P = 1.93e-08; odds ratio [OR] = 5.27e+03; 95% confidence interval [CI] = 3.18 to 8.739; Bonferroni correction [BONF] = 3.48e-07). In contrast, haplotype ""AG"" of the IL-10 gene promoter polymorphisms (rs1800896 and rs1800871) was present at a lower frequency in OT patients (P = 7e-04; OR = 0.10; 95% CI = 0.03 to 0.35). The +874A/T polymorphism of IFN-? was associated with OT (P = 3.37e-05; OR = 4.2; 95% CI = 2.478 to 7.12; BONF = 6.07e-04). Haplotype ""GAG"" of the IL-1? gene promoter polymorphisms (rs1143634, rs1143627, and rs16944) appeared to be significantly associated with OT (P = 0.0494). The IL-10, IFN-?, and IL-1? polymorphisms influence the development of OT in the Colombian population. ©2018 American Society for Microbiology.

Genetic polymorphisms in cytokine genes in colombian patients with ocular toxoplasmosis

Toxoplasmosis is caused by infection with the protozoan parasite Toxoplasma gondii, which has the capacity to infect all warm-blooded animals worldwide. 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. This work evaluates the associations between polymorphisms in genes coding for the cytokines tumor necrosis factor alpha (TNF-?) (rs1799964, rs1800629, rs1799724, rs1800630, and rs361525), interleukin 1? (IL-1?) (rs16944, rs1143634, and rs1143627), IL-1? (rs1800587), gamma interferon (IFN-?) (rs2430561), and IL-10 (rs1800896 and rs1800871) and the presence of ocular toxoplasmosis (OT) in a sample of a Colombian population (61 patients with OT and 116 healthy controls). Genotyping was performed with the 'dideoxynucleotide (ddNTP) primer extension' technique. Functional-effect predictions of single nucleotide polymorphisms (SNPs) were done by using FuncPred. A polymorphism in the IL-10 gene promoter (-1082G/A) was significantly more prevalent in OT patients than in controls (P = 1.93e-08; odds ratio [OR] = 5.27e+03; 95% confidence interval [CI] = 3.18 to 8.739; Bonferroni correction [BONF] = 3.48e-07). In contrast, haplotype 'AG' of the IL-10 gene promoter polymorphisms (rs1800896 and rs1800871) was present at a lower frequency in OT patients (P = 7e-04; OR = 0.10; 95% CI = 0.03 to 0.35). The +874A/T polymorphism of IFN-? was associated with OT (P = 3.37e-05; OR = 4.2; 95% CI = 2.478 to 7.12; BONF = 6.07e-04). Haplotype 'GAG' of the IL-1? gene promoter polymorphisms (rs1143634, rs1143627, and rs16944) appeared to be significantly associated with OT (P = 0.0494). The IL-10, IFN-?, and IL-1? polymorphisms influence the development of OT in the Colombian population. ©2018 American Society for Microbiology