Genetic Polymorphisms of MMP1, MMP9, COL1A1, and COL1A2 in Polish Patients with Thoracic Aortopathy
Table 5
MMP1, MMP9, COL1A1, and COL1A2 variants in patients with aortopathy in regard to the degree of aortic valve regurgitation.
Polymorphism
()
()
Compared genotypes or alleles
OR (95% CI) vs.
#
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.
