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Prevalence of TLR4 single nucleotide polymorphisms (ASP299GLY, THR399ILE) in healthy subjects and septic patients, and association with outcome
Critical Care volume 16, Article number: P3 (2012)
Our study aimed to determine the prevalence of functional SNPs (Asp299Gly, Thr399Ile) of TLR4 receptors, in healthy volunteers and septic patients in a Brazilian population and to correlate the presence of these polymorphisms in septic patients with clinical outcome.
We verified the presence of polymorphisms ASP299GLY, THR399 ILE by PCR-restriction fragment length polymorphism followed by digestion with enzymes Nco I for SNP 299 and Hinf I for SNP399 followed by electrophoresis for identification of alleles.
We observed a statistically significant difference between the genotypes of the Thr399Ile polymorphism and respiratory dysfunction, indicating a higher frequency than wild-type genotype in subjects with respiratory dysfunction than those without this condition (P = 0.001). We also observed a statistically significant difference between genotype groups formed by the Asp299Gly and Thr399Ile polymorphisms and respiratory dysfunction more often featuring group 299Selv/399Selv grupo299Het/399Het and less frequently in individuals with respiratory dysfunction than those without this condition (P = 0.003).
Our study shows for the first time an assessment of the prevalence of polymorphisms of TLR4 Asp299Gly and Thr399Ile considering its cosegregation in healthy individuals and septic patients. And that septic patients who develop respiratory dysfunction have more presence and genotypes 399Selv 299Selv/399Selv and less the presence of genotype 299Het/399Het, featuring a protective effect of the polymorphism Thr399Ile.
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Mohovic, T., Salomao, R. & Nogueira, E. Prevalence of TLR4 single nucleotide polymorphisms (ASP299GLY, THR399ILE) in healthy subjects and septic patients, and association with outcome. Crit Care 16, P3 (2012). https://doi.org/10.1186/cc10610
- Single Nucleotide Polymorphism
- Healthy Subject
- Healthy Volunteer
- Healthy Individual
- Fragment Length