ArticlePloS one2016
Association of Forced Vital Capacity with the Developmental Gene NCOR2.
Article in PloS one, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers, 1 of them a synthesis that pooled it.
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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
13 citing papers in PubMed, 1 synthesis or guideline pooled it, 94 citations in OpenAlex.
- Epigenome-wide meta-analysis of blood DNA methylation in newborns and children identifies numerous loci related to gestational age.Genome medicine · 2020Pooled it
- Nutrition as a Modifiable Factor in Optimizing Respiratory Health: Evidence from Pulmonary Function Tests.Children (Basel, Switzerland) · 2026Review
- Fat-soluble Vitamins and Lung Cancer: Where We Are?Recent patents on anti-cancer drug discovery · 2025Review
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- Epigenome-wide association study of bronchopulmonary dysplasia in preterm infants: results from the discovery-BPD program.Clinical epigenetics · 2022Article
- Parental Prepuberty Overweight and Offspring Lung Function.Nutrients · 2022Article
- Dietary intake of vitamin A, lung function and incident asthma in childhood.The European respiratory journal · 2021Article
- An EPIC predictor of gestational age and its application to newborns conceived by assisted reproductive technologies.Clinical epigenetics · 2021Article
- Enhanced Identification of Novel Potential Variants for Appendicular Lean Mass by Leveraging Pleiotropy With Bone Mineral Density.Frontiers in immunology · 2021Article
- Lung Development Genes and Adult Lung Function.American journal of respiratory and critical care medicine · 2020Article
- Low lung function in the developing world is analogous to stunting: a review of the evidence.Wellcome open research · 2020Article
- Vitamin A Deficiency and the Lung.Nutrients · 2018Review
- Enhanced Identification of Potential Pleiotropic Genetic Variants for Bone Mineral Density and Breast Cancer.Calcified tissue international · 2017Article
Corrections and comments
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Authors and funding
22 authors at 14 institutions in 6 countries.
Funding
Abstract
backgroundForced Vital Capacity (FVC) is an important predictor of all-cause mortality in the absence of chronic respiratory conditions. Epidemiological evidence highlights the role of early life factors on adult FVC, pointing to environmental exposures and genes affecting lung development as risk factors for low FVC later in life. Although highly heritable, a small number of genes have been found associated with FVC, and we aimed at identifying further genetic variants by focusing on lung development genes.
methodsPer-allele effects of 24,728 SNPs in 403 genes involved in lung development were tested in 7,749 adults from three studies (NFBC1966, ECRHS, EGEA). The most significant SNP for the top 25 genes was followed-up in 46,103 adults (CHARGE and SpiroMeta consortia) and 5,062 children (ALSPAC). Associations were considered replicated if the replication p-value survived Bonferroni correction (p<0.002; 0.05/25), with a nominal p-value considered as suggestive evidence. For SNPs with evidence of replication, effects on the expression levels of nearby genes in lung tissue were tested in 1,111 lung samples (Lung eQTL consortium), with further functional investigation performed using public epigenomic profiling data (ENCODE).
resultsNCOR2-rs12708369 showed strong replication in children (p = 0.0002), with replication unavailable in adults due to low imputation quality. This intronic variant is in a strong transcriptional enhancer element in lung fibroblasts, but its eQTL effects could not be tested due to low imputation quality in the eQTL dataset. SERPINE2-rs6754561 replicated at nominal level in both adults (p = 0.036) and children (p = 0.045), while WNT16-rs2707469 replicated at nominal level only in adults (p = 0.026). The eQTL analyses showed association of WNT16-rs2707469 with expression levels of the nearby gene CPED1. We found no statistically significant eQTL effects for SERPINE2-rs6754561.
conclusionsWe have identified a new gene, NCOR2, in the retinoic acid signalling pathway pointing to a role of vitamin A metabolism in the regulation of FVC. Our findings also support SERPINE2, a COPD gene with weak previous evidence of association with FVC, and suggest WNT16 as a further promising candidate.
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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.