Genotype distributions and allele frequencies of −786T/C eNOs, D/I ACE, −1562C/T MMP-9, −735C/T MMP-2 SNPs in 24 BAV and 110 TAV patients and 128 controls (2 × 2 comparisons between the different groups with OR and 95% CI)
| Candidate genes . | Reference SNP number . | Candidate SNPs . | BAV patients (N = 24) (%) . | TAV patients (N = 110) (%) . | Controls (N = 128) (%) . | P1 (3 × 2, 2 × 2 tables) . | P2 (3 × 2, 2 × 2 tables) . | OR1 (95% CI); P-value . | OR2 (95% CI) . |
|---|---|---|---|---|---|---|---|---|---|
| eNOS | rs2070744 | −786T/T | 22 (92) | 88 (80) | 81 (63) | 0.02 | 0.002 | 5.8 (1.3–24.9); 0.006 | 1.6 (1–2.6) P = 0.04 |
| −786T/C | 2 (8) | 15 (14) | 42 (33) | ||||||
| −786C/C | 0 (0) | 7 (6) | 5 (4) | ||||||
| −786T | 46 (96) | 191 (75) | 204 (80) | 0.01 | 0.03 | ||||
| −786C | 2 (4) | 29 (25) | 52 (20) | ||||||
| ACE | rs1799752 | I/I | 6 (25) | 74 (67) | 70 (55) | 0.01 | 0.0001 | 3.3 (1.6–6.5); 0.0005 | 2.07 (1.4–39 P = 0.0002 |
| D/I | 1 (4) | 10 (9) | 1 (1) | ||||||
| D/D | 17 (71) | 26 (24) | 57 (44) | ||||||
| I | 13 (27) | 158 (72) | 141 (55) | 0.02 | 0.0001 | ||||
| D | 35 (73) | 62 (28) | 115 (45) | ||||||
| MMP-9 | rs3918242 | −1562C/C | 15 (63) | 85 (77) | 116 (90) | 0.0005 | 0.01 | 5.9 (2.6–13.5); <0.0001 | 1.8 (0.9–3.6) P = 0.002 |
| −1562C/T | 5 (21) | 17 (15) | 9 (8) | ||||||
| −1562T/T | 4 (16) | 8 (8) | 3 (2) | ||||||
| −1562C | 35 (73) | 197 (90) | 241 (94) | 0.00001 | 0.04 | ||||
| −1562T | 13 (27) | 23 (10) | 15 (6) | ||||||
| MMP-2 | No rs available designation | −735C/C | 18 (75) | 96 (87) | 123 (96) | 0.0005 | 0.01 | 8.5 (2.5–28.2); 0.0007 | 5 (1.8–13.6) P = 0.0006 |
| −735C/T | 5 (21) | 8 (7) | 5 (4) | ||||||
| −735T/T | 1 (4) | 6 (6) | 0 (0) | ||||||
| −735C | 41 (85) | 200 (91) | 251 (98) | 0.0001 | 0.001 | ||||
| −735T | 7 (15) | 20 (9) | 5 (2) |
| Candidate genes . | Reference SNP number . | Candidate SNPs . | BAV patients (N = 24) (%) . | TAV patients (N = 110) (%) . | Controls (N = 128) (%) . | P1 (3 × 2, 2 × 2 tables) . | P2 (3 × 2, 2 × 2 tables) . | OR1 (95% CI); P-value . | OR2 (95% CI) . |
|---|---|---|---|---|---|---|---|---|---|
| eNOS | rs2070744 | −786T/T | 22 (92) | 88 (80) | 81 (63) | 0.02 | 0.002 | 5.8 (1.3–24.9); 0.006 | 1.6 (1–2.6) P = 0.04 |
| −786T/C | 2 (8) | 15 (14) | 42 (33) | ||||||
| −786C/C | 0 (0) | 7 (6) | 5 (4) | ||||||
| −786T | 46 (96) | 191 (75) | 204 (80) | 0.01 | 0.03 | ||||
| −786C | 2 (4) | 29 (25) | 52 (20) | ||||||
| ACE | rs1799752 | I/I | 6 (25) | 74 (67) | 70 (55) | 0.01 | 0.0001 | 3.3 (1.6–6.5); 0.0005 | 2.07 (1.4–39 P = 0.0002 |
| D/I | 1 (4) | 10 (9) | 1 (1) | ||||||
| D/D | 17 (71) | 26 (24) | 57 (44) | ||||||
| I | 13 (27) | 158 (72) | 141 (55) | 0.02 | 0.0001 | ||||
| D | 35 (73) | 62 (28) | 115 (45) | ||||||
| MMP-9 | rs3918242 | −1562C/C | 15 (63) | 85 (77) | 116 (90) | 0.0005 | 0.01 | 5.9 (2.6–13.5); <0.0001 | 1.8 (0.9–3.6) P = 0.002 |
| −1562C/T | 5 (21) | 17 (15) | 9 (8) | ||||||
| −1562T/T | 4 (16) | 8 (8) | 3 (2) | ||||||
| −1562C | 35 (73) | 197 (90) | 241 (94) | 0.00001 | 0.04 | ||||
| −1562T | 13 (27) | 23 (10) | 15 (6) | ||||||
| MMP-2 | No rs available designation | −735C/C | 18 (75) | 96 (87) | 123 (96) | 0.0005 | 0.01 | 8.5 (2.5–28.2); 0.0007 | 5 (1.8–13.6) P = 0.0006 |
| −735C/T | 5 (21) | 8 (7) | 5 (4) | ||||||
| −735T/T | 1 (4) | 6 (6) | 0 (0) | ||||||
| −735C | 41 (85) | 200 (91) | 251 (98) | 0.0001 | 0.001 | ||||
| −735T | 7 (15) | 20 (9) | 5 (2) |
All genotypes were in Hardy–Weinberg equilibrium.
P1 = significance values calculated by the χ2 test, analysing the data of these SNPs between BAV patients and controls.
P2 = significance values calculated by the χ2 test, analysing the data of these SNPs between TAV and controls.
OR1 = OR value calculated, analysing the data between BAV patients and controls.
OR2 = OR value calculated, analysing the data between TAV patients and controls
eNOS: endothelial nitric oxide synthase enzyme; ACE: angiotensin-converting enzyme; MMP-2 and -9: matrix metalloproteinase-2 and -9; rs: reference SNP number; SNPs: single-nucleotide polymorphisms.
Genotype distributions and allele frequencies of −786T/C eNOs, D/I ACE, −1562C/T MMP-9, −735C/T MMP-2 SNPs in 24 BAV and 110 TAV patients and 128 controls (2 × 2 comparisons between the different groups with OR and 95% CI)
| Candidate genes . | Reference SNP number . | Candidate SNPs . | BAV patients (N = 24) (%) . | TAV patients (N = 110) (%) . | Controls (N = 128) (%) . | P1 (3 × 2, 2 × 2 tables) . | P2 (3 × 2, 2 × 2 tables) . | OR1 (95% CI); P-value . | OR2 (95% CI) . |
|---|---|---|---|---|---|---|---|---|---|
| eNOS | rs2070744 | −786T/T | 22 (92) | 88 (80) | 81 (63) | 0.02 | 0.002 | 5.8 (1.3–24.9); 0.006 | 1.6 (1–2.6) P = 0.04 |
| −786T/C | 2 (8) | 15 (14) | 42 (33) | ||||||
| −786C/C | 0 (0) | 7 (6) | 5 (4) | ||||||
| −786T | 46 (96) | 191 (75) | 204 (80) | 0.01 | 0.03 | ||||
| −786C | 2 (4) | 29 (25) | 52 (20) | ||||||
| ACE | rs1799752 | I/I | 6 (25) | 74 (67) | 70 (55) | 0.01 | 0.0001 | 3.3 (1.6–6.5); 0.0005 | 2.07 (1.4–39 P = 0.0002 |
| D/I | 1 (4) | 10 (9) | 1 (1) | ||||||
| D/D | 17 (71) | 26 (24) | 57 (44) | ||||||
| I | 13 (27) | 158 (72) | 141 (55) | 0.02 | 0.0001 | ||||
| D | 35 (73) | 62 (28) | 115 (45) | ||||||
| MMP-9 | rs3918242 | −1562C/C | 15 (63) | 85 (77) | 116 (90) | 0.0005 | 0.01 | 5.9 (2.6–13.5); <0.0001 | 1.8 (0.9–3.6) P = 0.002 |
| −1562C/T | 5 (21) | 17 (15) | 9 (8) | ||||||
| −1562T/T | 4 (16) | 8 (8) | 3 (2) | ||||||
| −1562C | 35 (73) | 197 (90) | 241 (94) | 0.00001 | 0.04 | ||||
| −1562T | 13 (27) | 23 (10) | 15 (6) | ||||||
| MMP-2 | No rs available designation | −735C/C | 18 (75) | 96 (87) | 123 (96) | 0.0005 | 0.01 | 8.5 (2.5–28.2); 0.0007 | 5 (1.8–13.6) P = 0.0006 |
| −735C/T | 5 (21) | 8 (7) | 5 (4) | ||||||
| −735T/T | 1 (4) | 6 (6) | 0 (0) | ||||||
| −735C | 41 (85) | 200 (91) | 251 (98) | 0.0001 | 0.001 | ||||
| −735T | 7 (15) | 20 (9) | 5 (2) |
| Candidate genes . | Reference SNP number . | Candidate SNPs . | BAV patients (N = 24) (%) . | TAV patients (N = 110) (%) . | Controls (N = 128) (%) . | P1 (3 × 2, 2 × 2 tables) . | P2 (3 × 2, 2 × 2 tables) . | OR1 (95% CI); P-value . | OR2 (95% CI) . |
|---|---|---|---|---|---|---|---|---|---|
| eNOS | rs2070744 | −786T/T | 22 (92) | 88 (80) | 81 (63) | 0.02 | 0.002 | 5.8 (1.3–24.9); 0.006 | 1.6 (1–2.6) P = 0.04 |
| −786T/C | 2 (8) | 15 (14) | 42 (33) | ||||||
| −786C/C | 0 (0) | 7 (6) | 5 (4) | ||||||
| −786T | 46 (96) | 191 (75) | 204 (80) | 0.01 | 0.03 | ||||
| −786C | 2 (4) | 29 (25) | 52 (20) | ||||||
| ACE | rs1799752 | I/I | 6 (25) | 74 (67) | 70 (55) | 0.01 | 0.0001 | 3.3 (1.6–6.5); 0.0005 | 2.07 (1.4–39 P = 0.0002 |
| D/I | 1 (4) | 10 (9) | 1 (1) | ||||||
| D/D | 17 (71) | 26 (24) | 57 (44) | ||||||
| I | 13 (27) | 158 (72) | 141 (55) | 0.02 | 0.0001 | ||||
| D | 35 (73) | 62 (28) | 115 (45) | ||||||
| MMP-9 | rs3918242 | −1562C/C | 15 (63) | 85 (77) | 116 (90) | 0.0005 | 0.01 | 5.9 (2.6–13.5); <0.0001 | 1.8 (0.9–3.6) P = 0.002 |
| −1562C/T | 5 (21) | 17 (15) | 9 (8) | ||||||
| −1562T/T | 4 (16) | 8 (8) | 3 (2) | ||||||
| −1562C | 35 (73) | 197 (90) | 241 (94) | 0.00001 | 0.04 | ||||
| −1562T | 13 (27) | 23 (10) | 15 (6) | ||||||
| MMP-2 | No rs available designation | −735C/C | 18 (75) | 96 (87) | 123 (96) | 0.0005 | 0.01 | 8.5 (2.5–28.2); 0.0007 | 5 (1.8–13.6) P = 0.0006 |
| −735C/T | 5 (21) | 8 (7) | 5 (4) | ||||||
| −735T/T | 1 (4) | 6 (6) | 0 (0) | ||||||
| −735C | 41 (85) | 200 (91) | 251 (98) | 0.0001 | 0.001 | ||||
| −735T | 7 (15) | 20 (9) | 5 (2) |
All genotypes were in Hardy–Weinberg equilibrium.
P1 = significance values calculated by the χ2 test, analysing the data of these SNPs between BAV patients and controls.
P2 = significance values calculated by the χ2 test, analysing the data of these SNPs between TAV and controls.
OR1 = OR value calculated, analysing the data between BAV patients and controls.
OR2 = OR value calculated, analysing the data between TAV patients and controls
eNOS: endothelial nitric oxide synthase enzyme; ACE: angiotensin-converting enzyme; MMP-2 and -9: matrix metalloproteinase-2 and -9; rs: reference SNP number; SNPs: single-nucleotide polymorphisms.
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