ArticleAMIA ... Annual Symposium proceedings. AMIA Symposium2021
Gene-Based Analysis Reveals Sex-Specific Genetic Risk Factors of COPD.
Article in AMIA ... Annual Symposium proceedings. AMIA Symposium, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers, 1 of them a synthesis 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
11 citing papers in PubMed, 1 synthesis or guideline pooled it, 13 citations in OpenAlex.
- Genome-wide association study in minority children with asthma implicates DNAH5 in bronchodilator responsiveness.Scientific reports · 2022Pooled it
- Trial
- Whole genome sequence analysis of pulmonary function and COPD in 44,287 multi-ancestry participants.Genome biology · 2026Article
- Elevated Allele Frequency and Male-Predominance of a CommonCurrent issues in molecular biology · 2025Article
- Integration of single-cell and bulk transcriptomics uncovers CHST6 as a shared pathogenic driver in idiopathic pulmonary fibrosis and lung cancer.APL bioengineering · 2025Article
- Review
- mLeveraging genetic correlations to prioritize drug groups for repurposing in type 2 diabetes.The pharmacogenomics journal · 2025Article
- Characterisation of a COPD-associated nephronectin (The European respiratory journal · 2025Article
- lncRNALife science alliance · 2025Article
- Evaluation of Bayesian Linear Regression derived gene set test methods.BMC genomics · 2024Article
- Exploring the genetics of airflow limitation in lung function across the lifespan - a polygenic risk score study.EClinicalMedicine · 2024Article
Corrections and comments
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
Abstract
Sex-specific differences have been noted among people with chronic obstructive pulmonary disease (COPD), but whether these differences are attributable to genetic variation is poorly understood. The availability of large biobanks with deeply phenotyped subjects such as the UK Biobank enables the investigation of sex-specific genetic associations that may provide new insights into COPD risk factors. We performed sex-stratified genome-wide association studies (GWAS) of COPD (male: 12,958 cases and 95,631 controls; female: 11,311 cases and 123,714 controls) and found that while most associations were shared between sexes, several regions had sex-specific contributions, including respiratory viral infection-related loci in/near C5orf56 and PELI1. Using the newly developed R package 'snpsettest', we performed gene-based association tests and identified gene-level sex-specific associations, including C5orf56 on 5q31.1, CFDP1/TMEM170A/CHST6 on 16q23.1 and ASTN2/TRIM32 on 9q33.1. Our results identified promising genes to pursue in functional studies to better understand sexual dimorphism in COPD.
Indexed as
Identifiers
35308900PMC8861659W4287398633What OpenQuestion holds
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.