Functional characterization of TLR4 +3725 G/C polymorphism and association with protection against overweight

PLoS One. 2012;7(12):e50992. doi: 10.1371/journal.pone.0050992. Epub 2012 Dec 11.

Abstract

Subclinical low-grade systemic inflammation has been associated with obesity, insulin resistance and metabolic syndrome (MS). Recent studies have highlighted the role of gut microbiota in these disorders. The toll-like receptor 4 (TLR4) plays a key role in the innate immune response activation. We studied two polymorphisms (+3725G/C and 11350G/C) in the 3' untranslated region (3'UTR) of the TLR4 gene that may alter its expression and their association with metabolic disorders related to systemic inflammation. We cloned the 3'UTR into a luciferase reporter system and compared wild-type 3'UTR (WT) and +3725C variant (MUT) constructs luciferase activities. MUT construct reduced the reporter gene activity by 30% compared to WT (P = 0.0001). To evaluate the association between these polymorphisms with biochemical and clinical overweight related variables, we conducted a population cross-sectional study in 966 men of Argentine general population. Considering smoking as a confounding variable that causes systemic inflammation, we studied these possible effects in both, smokers and nonsmokers. The 11350G/C polymorphism was not detected in our sample whereas the CC genotype of +3725 polymorphism was associated with lean subjects (p = 0.011) and higher Adiponectin levels (p = 0.021). Subjects without any NCEP/ATP III MS component were associated with this genotype as well (p = 0.001). These results were strengthened in nonsmokers, in which CC genotype was associated with lean subjects (p = 0.003) and compared with G carriers showed significantly lower BMI (25.53 vs. 28.60 kg/m2; p = 0.023) and waist circumference (89.27 vs. 97.51 cm; p = 0.025). None of these associations were found in smokers. These results showed that +3725C variant has a functional effect down-regulating gene expression and it could be considered as a predictive factor against overweight, particularly in nonsmokers. Considering the role of TLR4 in inflammation, these findings would suggest that the presence of +3725C variant could predict a lower prevalence of chronic metabolic disorders.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • 3' Untranslated Regions / genetics
  • Adiponectin / blood
  • Adult
  • Gene Expression Regulation
  • Genetic Association Studies
  • Humans
  • Immunity, Innate*
  • Insulin Resistance / genetics
  • Male
  • Metabolic Syndrome / genetics
  • Obesity / genetics
  • Overweight* / blood
  • Overweight* / epidemiology
  • Overweight* / genetics
  • Polymorphism, Single Nucleotide
  • Smoking
  • Toll-Like Receptor 4 / genetics*

Substances

  • 3' Untranslated Regions
  • Adiponectin
  • TLR4 protein, human
  • Toll-Like Receptor 4

Grants and funding

This work was supported by the following grants: PICT 38343 and PICT-2008-260 (ANCyP-Argentina, http://www.agencia.mincyt.gov.ar/), UBACyT B118 - B104 and 20020090200714 (UBA-Argentina, http://www.uba.ar/), PIP 0697 (CONICET-Argentina, http://www.conicet.gov.ar/), and by a grant from the Ministerio de Sanidad y Consumo, Instituto de Salud Carlos III-RETIC http://www.isciii.es/(RD06/0015/0012), Madrid, Spain. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.