ArticleRespiratory research2012
Association of IREB2 and CHRNA3 polymorphisms with airflow obstruction in severe alpha-1 antitrypsin deficiency.
Article in Respiratory research, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT02691611 (Defining Epigenetic Regulation of Immunity in Alpha-1 Anti-trypsin Deficiency), which is not on this map. Cited by 20 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Defining Epigenetic Regulation of Immunity in Alpha-1 Anti-trypsin Deficiency
Who cites it
20 citing papers in PubMed, 49 citations in OpenAlex.
- Article
- Review
- Recent advancements in understanding the genetic involvement of alpha-1 antitrypsin deficiency associated lung disease: a look at future precision medicine approaches.Expert review of respiratory medicine · 2022Review
- Alpha-1 antitrypsin deficiency research and emerging treatment strategies: what's down the road?Therapeutic advances in chronic disease · 2021Review
- Leveraging Population Genomics for Individualized Correction of the Hallmarks of Alpha-1 Antitrypsin Deficiency.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
- Article
- Recent Developments in mRNA-Based Protein Supplementation Therapy to Target Lung Diseases.Molecular therapy : the journal of the American Society of Gene Therapy · 2019Review
- Iron in Lung Pathology.Pharmaceuticals (Basel, Switzerland) · 2019Review
- Alpha-1 antitrypsin deficiency: outstanding questions and future directions.Orphanet journal of rare diseases · 2018Review
- Understanding the role of the chromosome 15q25.1 in COPD through epigenetics and transcriptomics.European journal of human genetics : EJHG · 2018Article
- The "Iron"-y of Iron Overload and Iron Deficiency in Chronic Obstructive Pulmonary Disease.American journal of respiratory and critical care medicine · 2017Article
- Sex-Based Genetic Association Study Identifies CELSR1 as a Possible Chronic Obstructive Pulmonary Disease Risk Locus among Women.American journal of respiratory cell and molecular biology · 2017Article
- Article
- Sex differences of COPD phenotypes in nonsmoking patients.International journal of chronic obstructive pulmonary disease · 2016Article
- The role of iron in pulmonary pathology.Multidisciplinary respiratory medicine · 2015Article
- Mysteries of α1-antitrypsin deficiency: emerging therapeutic strategies for a challenging disease.Disease models & mechanisms · 2014Review
- Genetic determinants of chronic obstructive pulmonary disease in South Indian male smokers.PloS one · 2014Article
- Increased iron sequestration in alveolar macrophages in chronic obstructive pulmonary disease.PloS one · 2014Article
- Disorders of protein misfolding: alpha-1-antitrypsin deficiency as prototype.The Journal of pediatrics · 2013Article
Corrections and comments
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Authors and funding
16 authors at 14 institutions in 4 countries.
Funding
Abstract
backgroundThe development of COPD in subjects with alpha-1 antitrypsin (AAT) deficiency is likely to be influenced by modifier genes. Genome-wide association studies and integrative genomics approaches in COPD have demonstrated significant associations with SNPs in the chromosome 15q region that includes CHRNA3 (cholinergic nicotine receptor alpha3) and IREB2 (iron regulatory binding protein 2).We investigated whether SNPs in the chromosome 15q region would be modifiers for lung function and COPD in AAT deficiency.
methodsThe current analysis included 378 PIZZ subjects in the AAT Genetic Modifiers Study and a replication cohort of 458 subjects from the UK AAT Deficiency National Registry. Nine SNPs in LOC123688, CHRNA3 and IREB2 were selected for genotyping. FEV1 percent of predicted and FEV1/FVC ratio were analyzed as quantitative phenotypes. Family-based association analysis was performed in the AAT Genetic Modifiers Study. In the replication set, general linear models were used for quantitative phenotypes and logistic regression models were used for the presence/absence of emphysema or COPD.
resultsThree SNPs (rs2568494 in IREB2, rs8034191 in LOC123688, and rs1051730 in CHRNA3) were associated with pre-bronchodilator FEV1 percent of predicted in the AAT Genetic Modifiers Study. Two SNPs (rs2568494 and rs1051730) were associated with the post-bronchodilator FEV1 percent of predicted and pre-bronchodilator FEV1/FVC ratio; SNP-by-gender interactions were observed. In the UK National Registry dataset, rs2568494 was significantly associated with emphysema in the male subgroup; significant SNP-by-smoking interactions were observed.
conclusionsIREB2 and CHRNA3 are potential genetic modifiers of COPD phenotypes in individuals with severe AAT deficiency and may be sex-specific in their impact.
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Registered trials
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