Title: Whole-Genome Sequencing Analyses of COPD-Related Imaging Phenotypes.
Description: We conducted single-variant and gene-based burden tests using whole-genome sequencing of 9962 subjects in the COPDGene study on distinct imaging phenotypes. We also assessed heritability and co-heritability.
Ancestry: Non-Hispanic whites and African Americans.
Sample sizes (for each phenotype and/or overall study): 6626 Non-Hispanic white and 3336 African American subjects
Description of each phenotype (corresponding to each abbreviation in the dataset name):
Abbreviated name Definition
CT_Visual_Emph_Severity CT Visual Scoring, Emph Severity (0 = None | 1 = Trace CLE | 2 = Mild CLE | 3 = Moderate CLE | 4 = Confluent CLE | 5 = Advanced Destructive)
CT_Visual_Emph_Paraseptal CT Visual Scoring, Emph Paraseptal (0 = None | 1 = Mild | 2 = Substantial)
CT_Visual_Wall_Thickening CT Visual Scoring, Wall Thickening (0 = None | 1 = Possible | 2 = Definite)
Normal Local histogram - Preservation of the lung architecture without visible abnormalities
Mild.Centrilobular Local histogram - Subtle regions of emphysema within secondary pulmonary lobule; overall architecture is preserved
Moderate.Centrilobular Local histogram - More confluent regions of emphysema within the secondary pulmonary lobule; central bronchovascular bundle is preserved
Severe.Centrilobular Local histogram - Emphysematous destruction of the secondary pulmonary lobule including the central bronchovascular bundle. Interlobular septae are preserved.
Panlobular Local histogram - Complete effacement of the parenchyma including the septae and bronchovascular bundles
pctEmph % emphysema (-950), total lung, Thirona ("High-dose", "Full-dose")
Perc15_Insp Hu 15th Percentile, Insp, Full-dose
Perc15_Exp Hu 15th Percentile, Exp
pctEmph_UpperLobes % emphysema upper lobes, Thirona
pctEmph_LowerLobes % emphysema lower lobes, Thirona
pctEmph_UL_LL_ratio Upper lobe/Lower lobe ratio, Thirona
Insp_LAA950_LUL Insp_percentbelow950_LUL
Insp_LAA950_LLL Insp_percentbelow950_LLL
Insp_LAA950_RUL Insp_percentbelow950_RUL
Insp_LAA950_RML Insp_percentbelow950_RML
Insp_LAA950_RLL Insp_percentbelow950_RLL
Exp_LAA856_LUL Exp_percentbelow856_LUL
Exp_LAA856_LLL Exp_percentbelow856_LLL
Exp_LAA856_RUL Exp_percentbelow856_RUL
Exp_LAA856_RML Exp_percentbelow856_RML
Exp_LAA856_RLL Exp_percentbelow856_RLL
Perc15_Insp_LUL CT Histogram, Inspiratory, 15th Percentile in Hu, LUL
Perc15_Insp_LLL CT Histogram, Inspiratory, 15th Percentile in Hu, LLL
Perc15_Insp_RUL CT Histogram, Inspiratory, 15th Percentile in Hu, RUL
Perc15_Insp_RML CT Histogram, Inspiratory, 15th Percentile in Hu, RML
Perc15_Insp_RLL CT Histogram, Inspiratory, 15th Percentile in Hu, RLL
Perc15_Exp_LUL CT Histogram, Expiratory, 15th Percentile in Hu, LUL
Perc15_Exp_LLL CT Histogram, Expiratory, 15th Percentile in Hu, LLL
Perc15_Exp_RUL CT Histogram, Expiratory, 15th Percentile in Hu, RUL
Perc15_Exp_RML CT Histogram, Expiratory, 15th Percentile in Hu, RML
Perc15_Exp_RLL CT Histogram, Expiratory, 15th Percentile in Hu, RLL
MeanAtten_Insp_LUL Insp_MeanAtten_LUL
MeanAtten_Insp_LLL Insp_MeanAtten_LLL
MeanAtten_Insp_RUL Insp_MeanAtten_RUL
MeanAtten_Insp_RML Insp_MeanAtten_RML
MeanAtten_Insp_RLL Insp_MeanAtten_RLL
MeanAtten_Exp_LUL Exp_MeanAtten_LUL
MeanAtten_Exp_LLL Exp_MeanAtten_LLL
MeanAtten_Exp_RUL Exp_MeanAtten_RUL
MeanAtten_Exp_RML Exp_MeanAtten_RML
MeanAtten_Exp_RLL Exp_MeanAtten_RLL
adj_density_plethy Lung density, adjusted for the depth of inspiration assessed by phlethysmography
adj_density_mesa Lung density, MESA sponge model adjusted
PRM_pct_emphysema Parametric Response Mapping (PRM): Percent emphysema
PRM_pct_airtrapping Parametric Response Mapping (PRM): Percent air trapping
PRM_pct_normal Parametric Response Mapping (PRM): Percent normal
PRM_pct_other Parametric Response Mapping (PRM): Percent other
MeanAtten_Insp Mean Attenuation, Insp, total lung, Full-dose
MeanAtten_Exp Mean Attenuation, Exp, total lung
pctGasTrap Percent gas trapping, Slicer
UpperThird_LowerThird Upper Third/Lower Third ratio Slicer
TLC_Slicer Total lung capacity, Slicer
IntensityStdDev_In Ex_AttenStdDev Slicer
Insp_Lung_Mass Slicer Insp Lung Mass g
Insp_Skewness Slicer Insp Skewness
Insp_Histo_Mode Slicer Insp Intensity Hu Mode
IntensityStdDev_Ex Ex_AttenStdDev Slicer
exp_lung_mass Slicer Exp Lung Mass g
exp_skewness Slicer Exp Skewness
exp_histo_mode Slicer Exp Intensity Hu Mode
pctEmph_UpperThird pctEmph Upper Third Slicer
pctEmph_LowerThird pctEmph Lower Third Slicer
ExpInspMeanAtten_ratio Exp/Insp Mean Atten ratio Slicer
WallAreaPct_seg_Vida Wall area %, segmental (main 6), Vida
Pi10_SRWA Square root of airway wall area for a hypothetical 10-mm internal perimeter airway, Vida
Pi15_SRWA Square root of airway wall area for a hypothetical 15-mm internal perimeter airway, Vida
Pi10 Square root of airway wall area for a hypothetical 10-mm internal perimeter airway, Thirona
AWT_seg Airway Wall Thickness, segmental (main 6)
WallAreaPct_seg_Thirona Wall Area Percent, segmental (main 6), Thirona
TLC_Thirona Total lung capacity, Thirona
FRC Functional residual capacity, Thirona
FRC_TLC_ratio FRC/TLC ratio, Thirona
BV5 Aggregate vessel volume for vessels less than 5 mm2
BV5_10 Aggregate vessel volume for vessels between 5 and 10 mm2
BV10 Aggregate vessel volume for vessels less than 10 mm2
BV10_15 Aggregate vessel volume for vessels between 10 and 15 mm2
BV15_20 Aggregate vessel volume for vessels between 15 and 20 mm2
BV20_25 Aggregate vessel volume for vessels between 20 and 25 mm2
BV25_30 Aggregate vessel volume for vessels between 25 and 30 mm2
BV30_35 Aggregate vessel volume for vessels between 30 and 35 mm2
BV35_40 Aggregate vessel volume for vessels between 35 and 40 mm2
BV40_45 Aggregate vessel volume for vessels between 40 and 45 mm2
BV45_50 Aggregate vessel volume for vessels between 45 and 50 mm2
BV50_55 Aggregate vessel volume for vessels between 50 and 55 mm2
BV55_60 Aggregate vessel volume for vessels between 55 and 60 mm2
BV60_65 Aggregate vessel volume for vessels between 60 and 65 mm2
BV65_70 Aggregate vessel volume for vessels between 65 and 70 mm2
BV70_75 Aggregate vessel volume for vessels between 70 and 75 mm2
BV75_80 Aggregate vessel volume for vessels between 75 and 80 mm2
TBV_Slicer Total blood volume
bv5_TBV Ratio of aggregate vessel volume for vessels less than 5 mm2 (BV5) over total blood vessel volume (TBV)
bv10_TBV Ratio of aggregate vessel volume for vessels less than 10 mm2 (BV10) over total blood vessel volume (TBV)
AO_Diameter_Avg Average diameter of the aorta
PA_Diameter Diameter of the pulmonary artery at the bifurcation
PA_A_Ratio Ratio of the diameter of the pulmonary artery (PA) to that of the aorta (A)