Table 4.
Allele and genotypic frequency of the rs6570507 A/G polymorphism in patients with Marfan syndrome with and without thoracic deformity
| SNP | Genotype frequency, n (%) | Model | P1 value OR (95% CI) | P2 value OR (95% CI) | P3 value OR (95% CI) | P4 value OR (95% CI) | ||
|---|---|---|---|---|---|---|---|---|
| rs6570507 | 11 | 12 | 22 | |||||
| Scoliosis | ||||||||
| Positive | 4 (9) | 24 (55) | 15 (34) | Dominant | 0.59 0.46 (0.05–5.94) | 0.34 2.69 (0.31–22.32) | 0.66 (0.46 (0.03–3.16) | 1 0.77 (0.09–9.5) |
| Negative | 2 (18) | 3 (27) | 6 (54) | |||||
| Over dominant | 0.17 3.36 (0.78–14.46) | 1 1 (0.31–3.21) | 1 0.86 (0.29–2.5) | 1 0.88 (0.28–2.7) | ||||
| Pectus excavatum | ||||||||
| Positive | 3 (19) | 8 (50) | 5 (31) | Recessive | 0.39 0.44 (0.11–1.70) | 0.65 0.62 (0.18–2.15) | 0.45 1.8 (0.58–5.55) | 1 0.85 (0.26–2.76) |
| Negative | 3 (7) | 19 (50) | 16 (43) | |||||
| Pectus carinatum | ||||||||
| Positive | 2 (7) | 13 (48) | 12 (45) | Codominant 1 | 0.21 0.25 (0.03–1.99) | 0.37 2.37 (0.39–14.38) | 0.66 0.53 (0.08–3.45) | 1 0.7 (0.10–4.69) |
| Negative | 4 (15) | 14 (51) | 9 (34) | Codominant 2 | 1 0.8 (0.11–5.58) | 0.31 3.2 (0.48–21.16) | 0.38 0.37 (0.05–2.51) | 1 0.87 (0.12–5.94) |
| Dural ectasia | ||||||||
| Positive | 4 (10) | 20 (50) | 16 (40) | Additive | 0.61 1.8 (0.30–10.79) | 0.34 0.35 (0.06–1.90) | 0.41 2.31 (0.39–13.46) | 1 1.23 (0.21–7.27) |
| Negative | 2 (13) | 7 (43) | 7 (41) | |||||
| Allelic | 0.82 1.26 (0.46–3.44) | 0.39 1.58 (0.68–3.69) | 0.42 0.66 (0.30–1.47) | 1 1.02 (0.43–2.43) | ||||
11: Homozygous dominant; 12: Heterozygous; 22: Homozygous recessive; OR: Odds ratio; P1: Scoliosis vs non-scoliosis; P2: Pectus excavatum vs non-pectus excavatum; P3: Pectus carinatum vs non-pectus carinatum; P4: Dural ectasia vs non-dural ectasia; CI: Confidence interval; SNP: Single nucleotide polymorphism.