ArticleRespiratory research2008
The TNFalpha gene relates to clinical phenotype in alpha-1-antitrypsin deficiency.
Article in Respiratory research, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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Who cites it
22 citing papers in PubMed, 50 citations in OpenAlex.
- Hospital Admission Trends in Alpha-1-Antitrypsin Deficiency: A Sex-Based Analysis from the Spanish National Discharge Database, 2016-2022.Journal of clinical medicine · 2024Article
- Review
- Clinical and functional characteristics of individuals with alpha-1 antitrypsin deficiency: EARCO international registry.Respiratory research · 2022Observational
- Demographic and clinical characteristics of patients with αERJ open research · 2022Article
- Chronic lung diseases: prospects for regeneration and repair.European respiratory review : an official journal of the European Respiratory Society · 2021Review
- Alpha-1 antitrypsin deficiency research and emerging treatment strategies: what's down the road?Therapeutic advances in chronic disease · 2021Review
- Why is Disease Penetration so Variable in Alpha-1 Antitrypsin Deficiency? The Contribution of Environmental Factors.Chronic obstructive pulmonary diseases (Miami, Fla.) · 2020Review
- Why is Disease Penetration So Variable? Role of Genetic Modifiers of Lung Function in Alpha-1 Antitrypsin Deficiency.Chronic obstructive pulmonary diseases (Miami, Fla.) · 2020Review
- Leveraging Population Genomics for Individualized Correction of the Hallmarks of Alpha-1 Antitrypsin Deficiency.Chronic obstructive pulmonary diseases (Miami, Fla.) · 2020Review
- Alpha-1 antitrypsin deficiency: an update on clinical aspects of diagnosis and management.Faculty reviews · 2020Review
- Recent Developments in mRNA-Based Protein Supplementation Therapy to Target Lung Diseases.Molecular therapy : the journal of the American Society of Gene Therapy · 2019Review
- Alpha-1 antitrypsin deficiency: outstanding questions and future directions.Orphanet journal of rare diseases · 2018Review
- Article
- The rs361525 polymorphism does not increase production of tumor necrosis factor alpha by monocytes from alpha-1 antitrypsin deficient subjects with chronic obstructive pulmonary disease - a pilot study.Journal of negative results in biomedicine · 2015Article
- Clinically relevant subgroups in COPD and asthma.European respiratory review : an official journal of the European Respiratory Society · 2015Review
- Inflammatory cytokine response to exercise in alpha-1-antitrypsin deficient COPD patients 'on' or 'off' augmentation therapy.BMC pulmonary medicine · 2014Article
- Availability of 25-hydroxyvitamin D(3) to APCs controls the balance between regulatory and inflammatory T cell responses.Journal of immunology (Baltimore, Md. : 1950) · 2012Article
- Association of IREB2 and CHRNA3 polymorphisms with airflow obstruction in severe alpha-1 antitrypsin deficiency.Respiratory research · 2012Article
- Alpha1-antitrypsin deficiency: a clinical-genetic overview.The application of clinical genetics · 2011Article
- Chronic productive cough and extensive cysts in left lung.International journal of general medicine · 2011Article
Corrections and comments
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
Abstract
backgroundGenetic variation may underlie phenotypic variation in chronic obstructive pulmonary disease (COPD) in subjects with and without alpha 1 antitrypsin deficiency (AATD). Genotype specific sub-phenotypes are likely and may underlie the poor replication of previous genetic studies. This study investigated subjects with AATD to determine the relationship between specific phenotypes and TNFalpha polymorphisms.
methods424 unrelated subjects of the PiZZ genotype were assessed for history of chronic bronchitis, impairment of lung function and radiological presence of emphysema and bronchiectasis. A subset of subjects with 3 years consecutive lung function data was assessed for decline of lung function. Four single nucleotide polymorphisms (SNPs) tagging TNFalpha were genotyped using TaqMan(R) genotyping technologies and compared between subjects affected by each phenotype and those unaffected. Plasma TNFalpha levels were measured in all PiZZ subjects.
resultsAll SNPs were in Hardy-Weinberg equilibrium. A significant difference in rs361525 genotype (p = 0.01) and allele (p = 0.01) frequency was seen between subjects with and without chronic bronchitis, independent of the presence of other phenotypes. TNFalpha plasma level showed no phenotypic or genotypic associations.
conclusionVariation in TNFalpha is associated with chronic bronchitis in AATD.
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Registered trials
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