Table 4.
MMP1, MMP9, COL1A1, and COL1A2 variants in patients with aortopathy in regard to the type of aortic valve.
| Polymorphism | TAV group (n = 66) |
BAV group (n = 30) |
p ∗ | Compared genotypes or alleles | OR (95% CI) BAV vs. TAV |
p # |
|---|---|---|---|---|---|---|
| n | n | |||||
| rs1799750 MMP1 | ||||||
| 1G1G | 21 | 8 | 0.581 | 2G2G+1G2G vs. 1G1G | 1.28 (0.49-3.35) | 0.810 |
| 1G2G | 37 | 16 | 2G2G vs. 1G2G+1G1G | 1.81 (0.57-1.81) | 0.356 | |
| 2G2G | 8 | 6 | 2G vs. 1G | 1.30 (0.71-2.41) | 0.432 | |
| rs3918242 MMP9 | ||||||
| CC | 51 | 23 | 0.780 | TT+CT vs. CC | 1.03 (0.37-2.88) | 0.948 |
| CT | 14 | 7 | TT vs. CT+CC | 0 (-) | 0.498 | |
| TT | 1 | 0 | T vs. C | 0.96 (0.37-2.47) | 0.928 | |
| rs1800012 COL1A1 | ||||||
| GG | 48 | 17 | 0.276 | TT+GT vs. GG | 2.04 (0.83-5.03) | 0.158 |
| GT | 16 | 11 | TT vs. GT + GG | 2.29 (0.31-17.05) | 0.586 | |
| TT | 2 | 2 | T vs. G | 1.87 (0.88-3.97) | 0.110 | |
| rs42524 COL1A2 | ||||||
| CC | 35 | 8 | 0.049 | GG+CG vs. CC | 3.10 (1.21-7.97) | 0.026 |
| CG | 28 | 19 | GG vs. CG+CC | 2.33 (0.44-12.30) | 0.372 | |
| GG | 3 | 3 | G vs. C | 2.06 (1.08-3.92) | 0.029 |
TAV: tricuspid aortic valve; BAV: bicuspid aortic valve. 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.