Related Experiment Video
Updated: Apr 26, 2026
07:13
Phenotyping Mouse Pulmonary Function In Vivo with the Lung Diffusing Capacity
Published on: January 6, 2015
10.3K
Admixture mapping identifies a quantitative trait locus associated with FEV1/FVC in the COPDGene Study
Margaret M Parker1, Marilyn G Foreman, Haley J Abel
1Department of Epidemiology, Bloomberg School of Public Health, The Johns Hopkins University, Baltimore, Maryland, United States of America.
Genetic Epidemiology
|August 13, 2014
Summary
Genetic admixture analysis in African Americans identified a chromosome 12 region linked to reduced lung function (FEV1/FVC ratio). This finding aids in understanding COPD risk in diverse populations.
Area of Science:
- Genetics
- Pulmonary Medicine
- Population Health
Background:
- African Americans exhibit genetic admixture from European and African ancestries.
- Admixture mapping is a powerful tool for identifying genes associated with population-specific disease risks.
- Chronic Obstructive Pulmonary Disease (COPD) risk and progression vary significantly across different ancestral groups.
Purpose of the Study:
- To perform admixture and association mapping in African Americans to identify genetic loci influencing lung function.
- To investigate the relationship between local ancestry and FEV1/FVC ratio in a cohort of African American smokers.
- To pinpoint specific genetic variants associated with reduced FEV1/FVC ratio in the studied population.
Main Methods:
- Analysis of genetic admixture and single nucleotide polymorphism (SNP) genotype data in 3,300 African American participants from the COPDGene Study.
- Genome-wide admixture analysis controlling for demographic and environmental factors (age, sex, BMI, smoking history, principal components).
- Fine-mapping of identified regions using allelic association analysis to detect significant variants, including an intronic variant in FAM19A2 (rs348644).
Main Results:
- Global African ancestry showed an inverse association with the FEV1/FVC ratio (P = 0.035).
- A significant association between a region on chromosome 12q14.1 and FEV1/FVC ratio was identified through genome-wide admixture analysis (P = 2.1 × 10(-6)).
- An intronic variant (rs348644) in the FAM19A2 gene on chromosome 12 was strongly associated with reduced FEV1/FVC ratio (P = 1.76 × 10(-6)).
Conclusions:
- Admixture mapping successfully identified a novel locus on chromosome 12q14.1 associated with reduced FEV1/FVC ratio in African Americans.
- The intronic variant rs348644 in FAM19A2 is a potential causal variant influencing lung function in this population.
- These findings contribute to understanding the genetic architecture of COPD susceptibility and progression in admixed populations.
Related Concept Videos
01:29Pharmacogenomics: Identification of New Drug Targets
119
Advances in genomics have profoundly influenced drug discovery by increasing both the speed and accuracy of pharmaceutical development. Pharmacogenomics, which examines how genetic variation influences drug response, facilitates the identification of novel therapeutic targets and enables patient stratification for personalized treatment. These strategies contribute to improved drug efficacy, minimized adverse effects, and more efficient clinical trial design.Mapping genetic differences...
119
01:27Chronic Obstructive Pulmonary Disease-IV: Assessement and Diagnostic Studies
3.4K
Assessing and diagnosing Chronic Obstructive Pulmonary Disease (COPD) involves a detailed approach that includes a comprehensive review of medical history, physical examination, and a variety of diagnostic tests. This thorough evaluation is essential to ensure an accurate diagnosis and guide effective management strategies.
Medical History
Medical History
3.4K
01:18Polygenic Traits
58.3K
When more than one gene is responsible for a given phenotype, the trait is considered polygenic. Human height is a polygenic trait. Studies have uncovered hundreds of loci that influence height, and there are believed to be many more. Due to the high number of genes involved, as well as environmental and nutritional factors, height varies significantly within a given population. The distribution of height forms a bell-shaped curve, with relatively few individuals in the population at the...
58.3K
01:18Polygenic Traits
7.1K
7.1K
01:20COPD: Pathogenesis and Clinical Features
2.1K
Chronic obstructive pulmonary disease (COPD) is a group of lung conditions that progressively worsen over time, including chronic bronchitis and emphysema. This cluster of diseases collectively leads to a gradual and irreversible decline in lung function over time.
The primary cause for the onset of COPD is cigarette smoking and exposure to air pollution. These hazardous factors initiate a chain reaction within the lungs, resulting in chronic inflammation, damage to the airways, and a...
The primary cause for the onset of COPD is cigarette smoking and exposure to air pollution. These hazardous factors initiate a chain reaction within the lungs, resulting in chronic inflammation, damage to the airways, and a...
2.1K
01:19Factors Affecting Pulmonary Ventilation
3.1K
Besides the pressure difference between the external environment and the lungs, the airflow rate and ease of pulmonary ventilation are also influenced by three other factors: surface tension of the fluid in the alveoli, compliance of the lungs, and airway resistance.
Alveolar Surface Tension
The alveolar fluid lines the luminal surface of the alveoli and exerts a force called surface tension. This force is caused by the polar water molecules in the liquid being more strongly attracted to each...
Alveolar Surface Tension
The alveolar fluid lines the luminal surface of the alveoli and exerts a force called surface tension. This force is caused by the polar water molecules in the liquid being more strongly attracted to each...
3.1K