Table 1.

Genome-wide Association Studies of COPD and COPD-related Phenotypes

Reference	Study Design	Results	Limitations
Pillai SG, et al. (2009)59	GWAS of COPD in 1,633 participants in a case-control study in Norway, with subsequent replication of top results in additional cohorts (ICGN, NETT-NAS, and BEOCOPD)	Two SNPs in the CHRNA3/CHRNA5/IREB2 locus on chromosome (chr.) 15 (rs803491 and rs1051730) were significantly associated with COPD in two replication cohorts (ICGN and NETT-NAS) and in a combined analysis including the discovery (Norway) cohort These SNPs were also associated with lung function in ICGN and BEOCOPD	No genome-wide significant association with any SNP in the discovery cohort No functional data
Cho MH, et al. (2010)63	GWAS of COPD in 4,320 subjects in three case-control studies: Norway, NETT-NAS, and ECLIPSE. Replication was attempted in the COPDGene, BEOCOPD and ICGN studies.	A SNP in FAM13A, rs7671167, was significantly associated with COPD in the discovery cohort and in two of three replication cohorts (combined P=1.2 × 10−11, combined odds ratio for case-control studies 0.76, 95% confidence interval 0.69–0.83).	No functional data
Kong X, et al. (2011)65	GWAS of percent emphysema detected by computed tomography (CT) in the Norway, ECLIPSE, and NETT studies.	A SNP (rs10844154) in BICD1 on chr. 12 was significantly associated with emphysema in the meta-analysis of the three cohorts (OR for at least mild emphysema=1.46, P= 5.2 × 10−7 and OR for at least moderate emphysema=1.56, P=4.8 × 10−8) Strongest signals came from radiologist scoring rather than density mask analysis	No GW significant association with emphysema in any of the three individual cohorts No functional data
Wan E, et al. (2011)72	GWAS of body mass index (BMI) in ~3,000 subjects with COPD in three cohorts: ECLIPSE, Norway, and NETT, with replication attempted in 502 subjects in COPDGene. A GWAS of fat-free mass index (FFMI) in COPD subjects was conducted in ECLIPSE and Norway	SNP rs8050136, located in the intron of the fat mass and obesity–associated gene (FTO) was significantly associated with BMI P=4.97 × 10−7) and FFMI (p = 1.19 × 10−7) in the discovery cohort. Findings for BMI were replicated in COPDGene (P=6 × 10−3).	No functional data

SNP = single nucleotide polymorphism

ICGN = International COPD Genetics Network

NETT = National Emphysema Treatment Trial

NAS = Normative Aging Study

BEOCOPD = Boston Early-Onset COPD

Genetic Epidemiology of COPD: COPDGene Study

HRCT = high resolution computed tomography of the thorax