Table 5.
MMP1, MMP9, COL1A1, and COL1A2 variants in patients with aortopathy in regard to the degree of aortic valve regurgitation.
| Polymorphism | AVR ≤ 1 (n = 29) | AVR ≥ 2 (n = 67) | p ∗ | Compared genotypes or alleles | OR (95% CI) AVR ≥ 2 vs. AVR ≤ 1 |
p # |
|---|---|---|---|---|---|---|
| n | n | |||||
| rs1799750 MMP1 | ||||||
| 1G1G | 3 | 26 | 0.020 | 2G2G+1G2G vs. 1G1G | 0.18 (0.05-0.66) | 0.007 |
| 1G2G | 21 | 32 | 2G2G vs. 1G2G+1G1G | 0.74 (0.23-2.45) | 0.754 | |
| 2G2G | 5 | 9 | 2G vs. 1G | 0.52 (0.28-0.97) | 0.040 | |
| rs3918242 MMP9 | ||||||
| CC | 19 | 55 | 0.099 | TT+CT vs. CC | 0.41 (0.15-1.11) | 0.111 |
| CT | 9 | 12 | TT vs. CT+CC | 0 (-) | 0.302 | |
| TT | 1 | 0 | T vs. C | 0.42 (0.17-1.018) | 0.056 | |
| rs1800012 COL1A1 | ||||||
| GG | 15 | 50 | 0.003 | TT+GT vs. GG | 0.36 (0.15-0.91) | 0.034 |
| GT | 10 | 17 | TT vs. GT+GG | 0 (-) | 0.007 | |
| TT | 4 | 0 | T vs. G | 0.32 (0.15-0.69) | 0.004 | |
| rs42524 COL1A2 | ||||||
| CC | 12 | 31 | 0.905 | GG+CG vs. CC | 0.82 (0.34-1.98) | 0.823 |
| CG | 15 | 32 | GG vs. CG+CC | 0.86 (0.15-4.96) | 1.000 | |
| GG | 2 | 4 | G vs. C | 0.87 (0.45-1.69) | 0.734 |
AVR: aortic valve regurgitation. Genotype-phenotype associations are presented as odds ratios (OR) with 95% confidence intervals (95% CI) under dominant, recessive, and additive model of inheritance. ∗Chi-squared test. #Fisher's exact test.