ArticleHuman genetics2013
Genome-wide study identifies two loci associated with lung function decline in mild to moderate COPD.
Article in Human genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers, 2 of them syntheses that pooled it.
What it found
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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.
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Who cites it
28 citing papers in PubMed, 2 syntheses or guidelines pooled it, 57 citations in OpenAlex.
- Genome-Wide Association Study Identification of Novel Loci Associated with Airway Responsiveness in Chronic Obstructive Pulmonary Disease.American journal of respiratory cell and molecular biology · 2015Pooled it
- Large-scale genome-wide association studies and meta-analyses of longitudinal change in adult lung function.PloS one · 2014Pooled it
- The genetics of smoking in individuals with chronic obstructive pulmonary disease.Respiratory research · 2018Trial
- NOD1 modulates chronic obstructive pulmonary disease progression via FOXA1/NLRP3-mediated regulation of pyroptosis.Frontiers in immunology · 2026Article
- Genome-wide association study of lung function decline using elastic-net regression: a prospective analysis in Korean cohort.Human genomics · 2025Article
- Skeletal dysplasia-causing mutations in TRPV4 alter the chondrocyte transcriptomic response to mechanical loading.American journal of physiology. Cell physiology · 2025Article
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- Genetics of chronic obstructive pulmonary disease: understanding the pathobiology and heterogeneity of a complex disorder.The Lancet. Respiratory medicine · 2022Review
- Blood leukocyte count as a systemic inflammatory biomarker associated with a more rapid spirometric decline in a large cohort of iron and steel industry workers.Respiratory research · 2021Article
- Two-wave two-phase outcome-dependent sampling designs, with applications to longitudinal binary data.Statistics in medicine · 2021Article
- Chronic cigarette smoke exposure and pneumococcal infection induce oropharyngeal microbiota dysbiosis and contribute to long-lasting lung damage in mice.Microbial genomics · 2020Article
- The FOXA1 transcriptional network coordinates key functions of primary human airway epithelial cells.American journal of physiology. Lung cellular and molecular physiology · 2020Article
- Progressive effects of single-nucleotide polymorphisms on 16 phenotypic traits based on longitudinal data.Genes & genomics · 2020Article
- Two-Phase, Generalized Case-Control Designs for the Study of Quantitative Longitudinal Outcomes.American journal of epidemiology · 2020Article
- Genetic underpinnings of lung function and COPD.Journal of genetics · 2019Review
- Longitudinal analysis of epigenome-wide DNA methylation reveals novel smoking-related loci in African Americans.Epigenetics · 2019Article
- Surfactant protein D is a causal risk factor for COPD: results of Mendelian randomisation.The European respiratory journal · 2017Article
- Article
- Identification of Rare Variants in ATP8B4 as a Risk Factor for Systemic Sclerosis by Whole-Exome Sequencing.Arthritis & rheumatology (Hoboken, N.J.) · 2016Article
Corrections and comments
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Authors and funding
40 authors at 18 institutions in 5 countries.
Funding
Abstract
Accelerated lung function decline is a key COPD phenotype; however, its genetic control remains largely unknown. We performed a genome-wide association study using the Illumina Human660W-Quad v.1_A BeadChip. Generalized estimation equations were used to assess genetic contributions to lung function decline over a 5-year period in 4,048 European American Lung Health Study participants with largely mild COPD. Genotype imputation was performed using reference HapMap II data. To validate regions meeting genome-wide significance, replication of top SNPs was attempted in independent cohorts. Three genes (TMEM26, ANK3 and FOXA1) within the regions of interest were selected for tissue expression studies using immunohistochemistry. Two intergenic SNPs (rs10761570, rs7911302) on chromosome 10 and one SNP on chromosome 14 (rs177852) met genome-wide significance after Bonferroni. Further support for the chromosome 10 region was obtained by imputation, the most significantly associated imputed SNPs (rs10761571, rs7896712) being flanked by observed markers rs10761570 and rs7911302. Results were not replicated in four general population cohorts or a smaller cohort of subjects with moderate to severe COPD; however, we show novel expression of genes near regions of significantly associated SNPS, including TMEM26 and FOXA1 in airway epithelium and lung parenchyma, and ANK3 in alveolar macrophages. Levels of expression were associated with lung function and COPD status. We identified two novel regions associated with lung function decline in mild COPD. Genes within these regions were expressed in relevant lung cells and their expression related to airflow limitation suggesting they may represent novel candidate genes for COPD susceptibility.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.