Table 3.

Variants from Genome-Wide Association Studies of Moderate to Severe or Severe Chronic Obstructive Pulmonary Disease

Marker Name	Chr	Closest Gene	Risk Allele	Emphysema				Airway				Gas Trapping
				%LAA−950		Perc15		Pi10		Wall Area Percent
				All	Case	All	Case	All	Case	All	Case	All	Case
rs626750	11	MMP12	G	2 × 10−5	4 × 10−7	6 × 10−6	7 × 10−7	−0.1	−0	0.2	−0.1	0.008	0.1
rs4846480	1	TGFB2	A	2 × 10−6	3 × 10−5	1 × 10−4	5 × 10−4	−0.7	−0.4	0.2	−0.9	3 × 10−4	0.009
rs7937	19	RAB4B	T	2 × 10−6	0.03	6 × 10−5	0.03	0.9	−0.08	0.4	−0.04	9 × 10−4	0.2
rs754388	14	RIN3	C	3 × 10−5	0.1	5 × 10−5	0.04	0.4	−0.5	0.04	−0.6	0.003	0.1
rs7671167	4	FAM13A	T	3 × 10−4	0.3	2 × 10−4	0.07	0.6	−0.8	0.1	−0.5	9 × 10−5	0.6

Definition of abbreviations: %LAA−950 = percentage low attenuation area, using a threshold of −950 HU; Chr = chromosome; COPD = chronic obstructive pulmonary disease; GOLD = Global Initiative for Chronic Obstructive Lung Disease; HU = Hounsfield units; Perc15 = HU at the 15th percentile of the density histogram; Pi10 = airway wall area: the value for a hypothetical 10-mm airway obtained by plotting a regression line of the square root of the airway wall area versus the airway internal perimeter.

P values for genetic variants previously reported in genome-wide association analyses (23–26, 39, 40, 41, 69, 70). The risk allele for spirometric phenotypes denotes the allele associated with a lower FEV₁ or FEV₁/FVC ratio, and thus would be expected to increase risk for COPD. The sign associated with the P values denotes whether the direction of association is consistent with the direction for COPD (increase in %LAA−950, Pi10, wall area percent, or gas trapping; decrease in Perc15). Genome-wide significant loci from Table 2 (e.g., HHIP) are not included here. “All” refers to all subjects, and “Case” refers to all cases (GOLD 1–4 or 2–4).