Table 1 Previous association studies performed in COPD
Author (Year) | Case | Control | Population | Gene (Polymorphism) | rs number | Findings |
|---|---|---|---|---|---|---|
Minesmatu et al (2001) [14] | 45 COPD, emphysema on CT-Scan | 65 Smokers, No emphysema on CT-Scan | Japanese | MMP9 (-1562C/T) | rs3918242 | T allele with Emphysema DLco/VA lower and emphysemous changes distinct with C/T and T/T |
Joos et al (2002) [13] | 284 fast rate of lung function decline | 306 slow rate of lung function decline | Caucasian (USA) | MMP1 (-1607G/GG) MMP9 (CA Repeat) MMP9 (-1562C/T) MMP12 (-82A/G) MMP12 (357Asn/Ser) | rs1799750 N/A rs3918242 rs2276109 rs652438 | -1607GG associated with fast rate of decline of lung function Haplotypes of 357Asn/Ser and -1607G/GG associated with rate of decline of lung function |
Zhou et al 2004) [33] | 100 COPD | 98 healthy smokers | Han (South China) | MMP9 (-1562C/T) | rs3918242 | C/T and T allele frequencies significantly higher in COPD patients |
Zhang et al (2005) [30] | 147 COPD | 120 healthy smokers | Han (North China) | MMP1 (-1607G/GG) MMP9 (-1562C/T) MMP12 (-82A/G) MMP12 (357Asn/Ser) | rs1799750 rs3918242 rs2276109 rs652438 | 357 Asn/Asn is a risk factor for COPD |
Ito et al 2005) [34] | 84 COPD | 85 healthy smokers | Japanese | MMP9 (-1562C/T) | rs3918242 | T allele associated with upper lung dominant emphysema |
Hersh et al 2006) [35] | 304 COPD 127 families early onset COPD | 441 healthy smokers N/A | Caucasian (USA) | MMP1 (-1607G/GG) MMP9 (CA Repeat) | rs1799750 N/A | No Association found |
Tesfaigzi et al (2006) [25] | 385 male COPD with > 20 Pack Years | N/A | Caucasian (USA) | MMP1 (-1607G/GG) MMP9 (279 R/Q) MMP9 (-1562C/T) MMP9 (CA Repeat) | rs1799750 rs17576 rs3918242 N/A | Homozygous 279Arg associated with 3× risk for COPD. Haplotype containing 279Arg and CA associated with COPD risk. |
Schirmer et al (2009) [36] | 111 COPD | 101 Non smoking controls | Caucasian (Brazil) | MMP9 (-1562C/T) MMP12 (-82A/G) | rs3918242 rs2276109 | No Association found |