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. 2017 Mar 15;195(6):757–771. doi: 10.1164/rccm.201605-0997OC

Table 2.

Genome-Wide Significant Associations for Emphysema Distribution Phenotypes

          Metaanalysis COPDGene NHW (n = 6,215) COPDGene AA (n = 2,955) ECLIPSE (n = 1,538) GenKOLS (n = 824)
SNP Locus Nearest Gene Effect Allele Effect Allele Frequency Effect Size P Value Effect Size (SE) P Value Effect Size (SE) P Value Effect Size (SE) P Value Effect Size (SE) P Value
diff950                            
 rs138544659 15q25 CHRNA3/5 T 0.70 −0.12 9.87 × 10−15 −0.12 (0.02) 1.22 × 10−9 −0.12 (0.04) 0.002 −0.12 (0.04) 0.003 −0.12 (0.05) 0.03
 rs13141641 4q31 HHIP T 0.63 0.09 1.76 × 10−11 0.10 (0.02) 6.51 × 10−9 0.03 (0.04) 0.45 0.13 (0.03) 0.0002 0.05 (0.05) 0.24
ratio950                            
 rs13141641 4q31 HHIP T 0.62 0.12 6.34 × 10−18 0.15 (0.02) 4.92 × 10−17 0.04 (0.04) 0.34 0.11 (0.03) 0.002 0.05 (0.04) 0.24
 rs12914385 15q25 CHRNA3/5 T 0.38 0.11 1.72 × 10−17 0.13 (0.02) 4.36 × 10−14 0.07 (0.03) 0.03 0.08 (0.04) 0.02 0.13 (0.04) 0.003
 rs2645694 4q13 SOWAHB T 0.30 0.08 2.42 × 10−8 0.08 (0.02) 1.93 × 10−5 0.08 (0.03) 0.003 0.07 (0.04) 0.1 0.07 (0.05) 0.17
 rs75755010 8q24 TRAPPC9 A 0.08 −0.15 3.43 × 10−8 −0.15 (0.04) 0.001 −0.19 (0.04) 4.98 × 10−6 −0.01 (0.09) 0.9 −0.10 (0.10) 0.31
 rs35374984 10p12 KIAA1462 A 0.29 0.10 3.83 × 10−8 0.09 (0.03) 0.001 0.10 (0.03) 0.0004 0.12 (0.06) 0.06 0.18 (0.08) 0.03

Definition of abbreviations: AA = African American; COPDGene = Genetic Epidemiology of COPD; diff950 = inverse normally transformed upper-third/lower-third percent emphysema difference; ECLIPSE = Evaluation of COPD Longitudinally to Identify Predictive Surrogate Endpoints; GenKOLS = Genetics of Chronic Obstructive Lung Disease; NHW = non-Hispanic white; ratio950 = inverse normally transformed upper-third/lower-third percent emphysema ratio; SNP = single-nucleotide polymorphism.

Results of the individual studies and metaanalysis are shown.