TNFalpha Gene and Chronic Bronchitis in Alpha-1-Antitrypsin Deficiency
Author Information
Author(s): Alice M Wood, Matthew J Simmonds, Darren L Bayley, Paul R Newby, Stephen C Gough, Robert A Stockley
Primary Institution: University of Birmingham
Hypothesis
Variation in TNFα may influence clinical phenotype in alpha-1-antitrypsin deficiency (AATD).
Conclusion
Variation in TNFα is associated with chronic bronchitis in AATD.
Supporting Evidence
- A significant difference in rs361525 genotype and allele frequency was seen between subjects with and without chronic bronchitis.
- Plasma TNFα levels showed no phenotypic or genotypic associations.
- The study included 424 unrelated subjects with the PiZZ genotype.
Takeaway
This study found that a specific gene variation is linked to chronic bronchitis in people with a condition called alpha-1-antitrypsin deficiency.
Methodology
424 unrelated subjects with the PiZZ genotype were assessed for chronic bronchitis, lung function impairment, and genotyped for TNFα polymorphisms.
Limitations
The study did not find associations between TNFα levels and other phenotypes or lung function decline.
Participant Demographics
All subjects were unrelated Caucasian individuals from the UK national registry for AATD.
Statistical Information
P-Value
0.01
Confidence Interval
1.18–3.67
Statistical Significance
p = 0.01
Digital Object Identifier (DOI)
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