Table 1.
Chromosomal loci associated with COPD, reduced lung function, and lung cancer identified by GWA studies and overlap suggested by case-control study, modified with permission from PLoS One. Young RP, Hopkins RJ, Whittington CF, et al. Individual and cumulative effects of GWAS loci in lung cancer: associations after sub-phenotyping for COPD. PLoS One. 2011;6:e16476.44
| Disease | GWA study* | Chromosomal region | Candidate genes |
|---|---|---|---|
| COPD (FEV1) | Wilk et al27 | 1q23 | IL6R |
| Hancock et al24 | 4q22 | FAM13A | |
| Cho et al52 | |||
| Repapi et al25 | 4q24 | GSTCD | |
| Hancock et al24 | |||
| Wilk et al27 | 4q31 | HHIP/GYPA | |
| Pillai et al26 | |||
| Repapi et al25 | |||
| Hancock et al24 | |||
| Repapi et al25 | 5q33 | HTR4/ADAM19 | |
| Hancock et al24 | |||
| Repapi et al25 | 6p21 | BAT3/AGER | |
| Hancock et al24 | |||
| Hancock et al24 | 6q24 | GPR126 | |
| Pillai et al26 | 15q25 | CHRNA 3/5 | |
| Lung cancer | Amos et al23 | 1q21 | CRP |
| Amos et al23 | 4q31 | GYPA | |
| Amos et al23 | 5p15 | CRR9 (TERT) | |
| Hung et al28 | |||
| Amos et al23 | 6p21 | BAT3 | |
| Hung et al28 | |||
| Young et al88 | 6q24 | RGS17§ | |
| Amos et al23 | 15q25 | CHRNA 3/5 | |
| Hung et al28 | |||
| Thorgeirsson et al29 | |||
| COPD and lung cancer overlap | Case-control studies | ||
| Young et al30 | 15q25 | CHRNA 3/5 | |
| Young et al31 | 4q31 | HHIP/GYPA | |
| Young et al32 | 4q22 | FAM13A | |
Notes:
Available at www.genome.gov/gwastudies. Accessed 16/03/2011;
associated with familial lung cancer.88
Abbreviations: COPD, chronic obstructive pulmonary disease; GWAS, genome-wide association study; IL6R, interleukin-6 receptor; FAM13A, family with sequence similarity 13, member A; GSTCD, glutathione s-transferase, C-terminal domain containing; HHIP, Hedgehog interacting protein; GYPA, glycophorin A; HTR4, 5-hydroxytryptamine receptor 4; ADAM19, a disintegrin and metalloproteinase domain 19; BAT3, HLA-B associated transcript 3; AGER, advanced glycosylation end product-specific receptor; GPR126, G protein-coupled receptor 126; CHRNA3/5, locus containing both cholinergic receptor, nicotinic, alpha 3 and 5 genes; CRP, C-reactive protein; CRR9, cisplatin resistance-related protein; TERT, telomerase reverse transcriptase; RGS17, regulator of G-protein signaling 17.