Genetic Polymorphisms of MMP1, MMP9, COL1A1, and COL1A2 in Polish Patients with Thoracic Aortopathy
Table 4
MMP1, MMP9, COL1A1, and COL1A2 variants in patients with aortopathy in regard to the type of aortic valve.
Polymorphism
TAV group ()
BAV group ()
Compared genotypes or alleles
OR (95% CI) BAV vs. TAV
#
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.
