From SNPedia
| Genotype | Effect |
|---|
| rs17576(A;A)* | normal risk for lung cancer; higher risk for MI |
| rs17576(A;G) | higher risk for MI and lung cancer, and, COPD in smokers |
| rs17576(G;G)* | higher risk for lung cancer, and, COPD in smokers; normal risk for MI |
rs17576, also known as Gln279Arg or Q279R, is a SNP in exon 6 of the matrix metalloproteinase-9 MMP9 gene. The rs17576(G) allele encodes the Arg (R).
In a study of 385 male veterans with greater than 20 pack-years of cigarette smoking, rs17576(G) allele carriers were at higher risk for chronic obstructive pulmonary disease (COPD). The rs17576(G;G) homozygous genotype was at 3-fold increased risk for COPD.[PMID 18046864]
A study of 744 Chinese patients with lung cancer found that the rs17576(G;G) genotype was associated with higher risk of lung cancer with metastasis (adjusted OR, 1.79, CI: 1.03-3.08) compared to the (A;A) genotype.[PMID 16061858]
rs17576 is also one of two SNPs in the MMP9 gene associated with increased risk for myocardial infarction, but not coronary artery disease. The relatively weak odds ratios for carriers of one rs17576(A) allele was 1.15 (p=0.26), and for (A;A) homozygotes, 1.09 (p=0.33). However, this study of 5,000+ Caucasian patients with heart disease also indicated that a composite genotype (i.e. unphased haplotype) of the two MMP9 SNPs (rs3918242 and rs17576, respectively) yielded a significant odds ratio of 1.25 (CI: 1.07 - 1.48, p=0.007) for the (C;T)/(A;G) combination compared to (C;C)/(G;G) combination genotypes.[PMID 17893005]
[PMID 18455130] (IVS10-8C T; rs9406328) and (Q279R; rs17576) showed significant association with lumbar-disc herniation (odds ratio 3.03, 95% confidence interval 1.58-5.77)
| ? | (A;A) (A;G) (G;G) |
|---|
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