Genetic Polymorphisms in Cytokine Genes in Colombian Patients with Ocular Toxoplasmosis

Ligia Alejandra Delatorre Cifuentes, carlos andres Naranjo Galvis, Jorge Enrique Gómez Marin , Luz Eliana Mantilla Muriel, leonardo Beltran Angarita , Xabier Elcoroaristizabal Martín, Rima McLeod, Ney Alliey Rodríguez, I. J. Begeman, Clara López De Mesa, Juan Carlos Sepulveda-Arias

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30 Scopus citations


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 1.93e08; odds ratio [OR] 5.27e03; 95% confidence
interval [CI] 3.18 to 8.739; Bonferroni correction [BONF] 3.48e07). In contrast,
haplotype “AG” of the IL-10 gene promoter polymorphisms (rs1800896 and
rs1800871) was present at a lower frequency in OT patients (P 7e04; OR 0.10;
95% CI 0.03 to 0.35). The 874A/T polymorphism of IFN- was associated with OT
(P 3.37e05; OR 4.2; 95% CI 2.478 to 7.12; BONF 6.07e04). 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
Translated title of the contribution Polimorfismos genéticos en genes de citoquinas en pacientes colombianos con toxoplasmosis ocular
Original languageEnglish
Pages (from-to)1/16
Number of pages16
JournalInfection and Immunity
StatePublished - Feb 5 2018


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