ArticleBMC pulmonary medicine2016
Targeted high-throughput sequencing of candidate genes for chronic obstructive pulmonary disease.
Article in BMC pulmonary medicine, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed, 18 citations in OpenAlex.
- Investigating the role of eight SNPs inAnnals of medicine · 2025Article
- Genetic Variants in the Adhesive G Protein-Coupled Receptor ADGRG6 are Associated with Increased Susceptibility to COPD in the Elderly Han Chinese Population of Southern China.International journal of chronic obstructive pulmonary disease · 2024Article
- Progesterone activates GPR126 to promote breast cancer development via the Gi pathway.Proceedings of the National Academy of Sciences of the United States of America · 2022Article
- A genome-wide association study of quantitative computed tomographic emphysema in Korean populations.Scientific reports · 2021Article
- PulmonDB: a curated lung disease gene expression database.Scientific reports · 2020Article
- Integration of SNP Disease Association, eQTL, and Enrichment Analyses to Identify Risk SNPs and Susceptibility Genes in Chronic Obstructive Pulmonary Disease.BioMed research international · 2020Article
- Whole exome sequencing analysis in severe chronic obstructive pulmonary disease.Human molecular genetics · 2018Article
- Study on polymorphisms in CHRNA5/CHRNA3/CHRNB4 gene cluster and the associated with the risk of non-small cell lung cancer.Oncotarget · 2018Article
- From COPD epidemiology to studies of pathophysiological disease mechanisms: challenges with regard to study design and recruitment process: Respiratory and Cardiovascular Effects in COPD (KOLIN).European clinical respiratory journal · 2017Article
Corrections and comments
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Authors and funding
14 authors at 8 institutions in 4 countries.
Funding
Abstract
backgroundReduced lung function in patients with chronic obstructive pulmonary disease (COPD) is likely due to both environmental and genetic factors. We report here a targeted high-throughput DNA sequencing approach to identify new and previously known genetic variants in a set of candidate genes for COPD.
methodsExons in 22 genes implicated in lung development as well as 61 genes and 10 genomic regions previously associated with COPD were sequenced using individual DNA samples from 68 cases with moderate or severe COPD and 66 controls matched for age, gender and smoking. Cases and controls were selected from the Obstructive Lung Disease in Northern Sweden (OLIN) studies.
resultsIn total, 37 genetic variants showed association with COPD (p < 0.05, uncorrected). Several variants previously discovered to be associated with COPD from genetic genome-wide analysis studies were replicated using our sample. Two high-risk variants were followed-up for functional characterization in a large eQTL mapping study of 1,111 human lung specimens. The C allele of a synonymous variant, rs8040868, predicting a p.(S45=) in the gene for cholinergic receptor nicotinic alpha 3 (CHRNA3) was associated with COPD (p = 8.8 x 10
conclusionOur data replicate previous result suggesting CHRNA5 as a candidate gene for COPD and rs8040868 as a risk variant for the development of COPD in the Swedish population.
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