The −509 C/T genotype of TGFβ1 might contribute to the pathogenesis of benign airway stenosis

Abstract

Benign airway stenosis (BAS) is one of the most severe complications of endotracheal intubation. The aim of this pilot study was to compare the frequencies of four polymorphisms of the transforming growth factor (TGF) beta1 gene in patients with BAS due to endotracheal intubation (n = 36) and a control group of intensive care patients who had also undergone endotracheal intubation but did not present BAS (n = 30). One of the studied polymorphisms, the -509 C/T, demonstrated a differential genotype distribution between the affected and the control population: the ratio of heterozygous mutants was significantly (P = 0.0116) higher among the control patients. These data suggest a protective function of the frequent heterozygous C/T genotype against BAS; alternatively, the C/C genotype might be a susceptibility factor for BAS (OR 4.5; 95% CI 1.5123-13.3902). Our findings suggest that, besides other iatrogenic factors, a genetic predisposition might contribute to the pathogenesis of BAS.

Frequencies of -308G/A (TNFA) and -509C/T (TGFB1) polymorphisms in sickle cell anemia patients from Brazil

“…The similarity with the frequencies obtained in our study is probably due to resemblance of the two populations, but not to the chronic inflammatory process. Regarding a study in Hungary with healthy individuals (Rovo et al, 2010), a population with different ethnic characteristics from the Brazilian one, the absence of a difference can be explained by the small sample number (N = 30), which probably was not representative of the Hungarian population. Differences relative to Korean individuals (Kim et al, 2010), in turn, demonstrate the low influence of this ethnicity in the formation of the Brazilian population.…”

Translational genomics of acquired laryngotracheal stenosis

“…A basic understanding of its underlying genetic predisposition is a major step forward in our assault on this condition. Thus far, the genetic susceptibility for ALTS has not been well studied, aside from one pilot study focused on TGF‐β1 . In this pilot study, we have identified a novel association of the genetic polymorphism MMP‐1 rs1799750 with the development of ALTS.…”

Determining Candidate Single Nucleotide Polymorphisms in Acquired Laryngotracheal Stenosis

“…MCP‐1 is a chemokine that is made by monocytes and macrophages and contributes to recruitment of these two cell populations . TGF‐β1 is a cytokine with complex immunomodulatory and fibrosis function …”

“…One strategy to identify molecular markers is to employ a candidate gene approach examining genes involved in wound healing. A single nucleotide polymorphism (SNP) of the TGFβ1 gene was shown to be associated with ALTS in a study of 66 Caucasian patients . Transforming growth factor type beta 1 (TGF‐β1) plays an important role in immunity and fibrosis.…”