TNF-alpha promoter polymorphism in relation to TNF-alpha production and clinical status in cystic fibrosis.

Lung
Sabina Schmitt-GrohéStefan Zielen

Abstract

The severity of lung disease in cystic fibrosis may be related to the genetic propensity of the host to produce tumor necrosis fector alpha (TNF-alpha). A polymorphism in the promoter region of the TNF-alpha gene at nucleotide 308 relative to the transcription start site may be important in determing the host's TNF-alpha response. The aim of this study was to assess the correlation between a TNF-308 promoter polymorphism, ex vivo TNF-alpha production (before and after lipopolysaccharide (LPS) stimulation), and clinical status [FEV1, weight (z-score), BMI, Shwachman score, incidence of diabetes mellitus, and Pseudomonas aeruginosa infection). Genotyping for the biallelic TNF-308 polymorphism was performed by using a real-time PCR cycler. Patients (homozygous for Delta F 508) were grouped according to genotype (TNF2 carriers, n = 16, median age = 15 yr, female/male = 5/11; TNF1 homozygotes, n = 37, median age = 21 yr, female/male = 18/19). TNF-alpha was measured using a chemiluminescent immunometric assay. There was a trend toward higher TNF-alpha values [median TNF2 carriers vs. TNF1 homozygotes: x = 56 vs. 43.5 pg/ml, n.s. (Mann-Whitney U-test] in those carrying the polymorphism and better lung function results [FEV(1) (%) 81 v...Continue Reading

Associated Clinical Trials

Jan 27, 2020·Sabina Schmitt-Grohe

References

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Citations

Sep 25, 2008·Current Opinion in Pulmonary Medicine·Joseph M Collaco, Garry R Cutting
Apr 4, 2009·American Journal of Respiratory and Critical Care Medicine·Valérie DufresneMarc Estenne
Feb 27, 2014·The International Journal of Biochemistry & Cell Biology·Loic GuillotHarriet Corvol
Aug 15, 2008·Respiratory Medicine·Gratiana SteinkampStefan Zielen
Nov 29, 2020·European Journal of Clinical Investigation·Rossella GaudinoGiorgio Piacentini

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