COPDGene 2024 COPD-related imaging phenotypes WGS: trans-ancestry

Publication

Whole-Genome Sequencing Analyses of COPD-Related Imaging Phenotypes.
Boueiz A, et al.
Submitted for publication, 2024.

README

Phenotypes

  • Lung density, MESA sponge model adjusted
  • Lung density, adjusted for depth of inspiration assessed by phlethysmography
  • Aorta average diameter
  • Airway wall thickness, segmental (main 6)
  • Aggregate vessel volume, vessels <10 mm2
  • Aggregate vessel volume, vessels 10-15 mm2
  • Ratio of aggregate vessel volume (vessels <10 mm2) to total blood vessel volume
  • Aggregate vessel volume, vessels 15-20 mm2
  • Aggregate vessel volume, vessels 20-25 mm2
  • Aggregate vessel volume, vessels 25-30 mm2
  • Aggregate vessel volume, vessels 30-35 mm2
  • Aggregate vessel volume, vessels 35-40 mm2
  • Aggregate vessel volume, vessels 40-45 mm2
  • Aggregate vessel volume, vessels 45-50 mm2
  • Aggregate vessel volume, vessels <5 mm2
  • Aggregate vessel volume, vessels 5-10 mm2
  • Ratio of aggregate vessel volume (vessels <5 mm2) to total blood vessel volume
  • Aggregate vessel volume, vessels 50-55 mm2
  • Aggregate vessel volume, vessels 55-60 mm2
  • Aggregate vessel volume, vessels 60-65 mm2
  • Aggregate vessel volume, vessels 65-70 mm2
  • Aggregate vessel volume, vessels 70-75 mm2
  • Aggregate vessel volume, vessels 75-80 mm2
  • CT visual scoring, emphysema paraseptal
  • CT visual scoring, emphysema severity
  • CT visual scoring, wall thickening
  • Slicer Exp Intensity Hu Mode
  • Exp percent below 856 LLL
  • Exp percent below 856 LUL
  • Exp percent below 856 RLL
  • Exp percent below 856 RML
  • Exp percent below 856 RUL
  • Slicer Exp Lung Mass g
  • Slicer Exp Skewness
  • Exp/Insp Mean Atten ratio Slicer
  • Functional residual capacity, Thirona
  • FRC to TLC ratio, Thirona
  • Slicer Insp Intensity Hu Mode
  • Insp percent below 950 LLL
  • Insp percent below 950 LUL
  • Insp percent below 950 RLL
  • Insp percent below 950 RML
  • Insp percent below 950 RUL
  • Slicer Insp Lung Mass g
  • Slicer Insp Skewness
  • Ex Atten StdDev Slicer
  • In Atten StdDev Slicer
  • Subtle regions of emphysema within secondary pulmonary lobule
  • More confluent regions of emphysema within the secondary pulmonary lobule
  • Normal lung architecture
  • Emphysematous destruction of the secondary pulmonary lobule including the central bronchovascular bundle
  • Mean Attenuation, Exp, total lung
  • Exp MeanAtten LLL
  • Exp MeanAtten LUL
  • Exp MeanAtten RLL
  • Exp MeanAtten RML
  • Exp MeanAtten RUL
  • Mean Attenuation, Insp, total lung, Full-dose
  • Insp MeanAtten LLL
  • Insp MeanAtten LUL
  • Insp MeanAtten RLL
  • Insp MeanAtten RML
  • Insp MeanAtten RUL
  • Ratio of pulmonary artery diameter to aorta diameter
  • Pulmonary artery diameter at the bifurcation
  • Complete effacement of parenchyma, including septae and bronchovascular bundles
  • Percent emphysema, total lung, Thirona
  • Percent emphysema, lower lobes, Thirona
  • Percent emphysema, lower third Slicer
  • Upper lobe/Lower lobe ratio, Thirona
  • Percent emphysema, upper lobes, Thirona
  • Percent emphysema, upper third Slicer
  • Percent gas trapping, Slicer
  • Hu 15th Percentile, Exp
  • CT Histogram, Expiratory, 15th Percentile in Hu, LLL
  • CT Histogram, Expiratory, 15th Percentile in Hu, LUL
  • CT Histogram, Expiratory, 15th Percentile in Hu, RLL
  • CT Histogram, Expiratory, 15th Percentile in Hu, RML
  • CT Histogram, Expiratory, 15th Percentile in Hu, RUL
  • Hu 15th Percentile, Inspiratory, Full-dose
  • CT Histogram, Inspiratory, 15th Percentile in Hu, LLL
  • CT Histogram, Inspiratory, 15th Percentile in Hu, LUL
  • CT Histogram, Inspiratory, 15th Percentile in Hu, RLL
  • CT Histogram, Inspiratory, 15th Percentile in Hu, RML
  • CT Histogram, Inspiratory, 15th Percentile in Hu, RUL
  • Square root of wall area for a hypothetical 10-mm internal perimeter airway, Thirona
  • Square root of wall area for a hypothetical 10-mm internal perimeter airway, Vida
  • Square root of wall area for a hypothetical 15-mm internal perimeter airway, Vida
  • Parametric Response Mapping: Percent air trapping
  • Parametric Response Mapping: Percent emphysema
  • Parametric Response Mapping: Percent normal
  • Parametric Response Mapping: Percent other
  • Total blood volume
  • Total lung capacity, Slicer
  • Total lung capacity, Thirona
  • Upper third to lower third ratio, Slicer
  • Wall area percent, segmental (main 6), Thirona
  • Wall area percent, segmental (main 6), Vida

Experiment summary

This study analyzed genetic associations for

Dataset ID
Boueiz2024_ChestImaging_Mixed