AI Article Synopsis

  • - Ocular toxoplasmosis (OT) is an eye inflammation caused by the Toxoplasma gondii parasite, and this study aimed to find new genetic variations (SNPs) that might affect the immune response to OT in Colombian patients.
  • - Researchers conducted a study involving 64 patients with OT and 64 controls, focusing on specific genetic variations (rs1718119 and rs2230912) to analyze their potential link to OT.
  • - One specific mutation, Gln460Arg, was significantly associated with OT, suggesting it could be a biomarker to identify individuals at risk, while the other SNP did not show a notable link.

Article Abstract

Ocular toxoplasmosis (OT) is characterized by inflammation within the eye and is the most recognized clinical manifestation of toxoplasmosis. The objective of this study was to identify new single-nucleotide polymorphisms (SNPs) in the gene that may have significance in the immune response to OT in Colombian patients. A case-control study was conducted to investigate the associations between SNPs (rs1718119 and rs2230912) in the gene and OT in 64 Colombian patients with OT and 64 controls. Capillary electrophoresis was used to analyze the amplification products, and in silico algorithms were employed to predict deleterious SNPs. Stability analysis of amino acid changes indicated that both mutations could lead to decreased protein structure stability. A nonsynonymous SNP, Gln460Arg, located in the long cytoplasmic tail of the receptor, showed a significant association with OT (Bonferroni correction (BONF) = 0.029; odds ratio OR = 3.46; confidence interval CI: 1.05 to 11.39), while no significant association between rs1718119 and OT risk was observed. Based on the 3D structure analysis of the protein trimer, it is hypothesized that an increase in the flexibility of the cytoplasmic domain of this receptor could alter its function. This SNP could potentially serve as a biomarker for identifying Colombian patients at risk of OT.

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Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10609425PMC
http://dx.doi.org/10.3390/microorganisms11102508DOI Listing

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