Table 3.
Allelic and genotypic frequency of SNPs rs6570507 and rs7755109 in controls and patients with Marfan syndrome in relation to sex
| SNP | Genotype frequency, n (%) | Model | P1 value OR (95% CI) | P2 value OR (95% CI) | ||
|---|---|---|---|---|---|---|
| rs6570507 | 11 | 12 | 22 | |||
| Control | ||||||
| Men | 11 (9) | 57 (49) | 53 (46) | Dominant | 0.26 0.47 (0.12–2.27) | 0.70 1.77 (0.33–9.3) |
| Women | 6 (8) | 27 (36) | 42 (56) | |||
| Over dominant | 0.63 1.38 (0.55–3.4) | 0.05 0.40 (0.17–0.95) | ||||
| MFS | ||||||
| Men | 4 (15.9) | 9 (47.7) | 10 (36.4) | Recessive | 0.22 1.38 (0.55–3.4) | 0.03 2.46 (1.03–5.87) |
| Women | 2 (9.6) | 18 (50) | 11 (40.4) | Codominant 1 | 0.24 0.43 (0.11–1.66) | 0.69 2 1 (0.36–11.03) |
| Codominant 2 | 0.45 1.92 (0.51–7.27) | 1 1.27 (0.22–7.19) | ||||
| Additive | 0.26 0.48 (0.14–1.64) | 1 1.08 (0.20–5.57) | ||||
| Allelic | 0.69 0.82 (0.42–1.59) | 0.22 0.63 (0.33–1.20) | ||||
| rs7755109 | 11 | 12 | 22 | |||
| Control | ||||||
| Men | 60 (52) | 45 (39) | 10 (8) | Dominant | 0.49 1.41 (0.57–3.49) | 0.09 2.22 (0.94–5.22) |
| Women | 45 (60) | 27 (36) | 5 (6) | |||
| Over dominant | 0.81 1.20 (0.47–3.07) | 0.03 0.39 (0.16–0.91) | ||||
| MFS | ||||||
| Men | 10 (43) | 8 (22) | 5 (18.1) | Recessive | 0.13 0.34 (0.10–1.120) | 0.67 2.08 (0.23–18.5) |
| Women | 12 (39) | 18 (51) | 1 (3) | Codominant 1 | 1 0.93 (0.34–2.56) | 0.04 0.4 (0.16–0.95) |
| Codominant 2 | 0.12 0.33 (0.09–1.18) | 1 1.33 (0.14–12.51) | ||||
| Additive | 0.67 1.24 (0.52–2.94) | 0.14 2.02 (0.87–4.68) | ||||
| Allelic | 0.15 1.69 (0.87–3.28) | 0.23 1.50 (0.78–2.87) | ||||
Bold indicates statistical significance; 11: homozygous dominant; 12: heterozygous; 22: homozygous recessive; OR: Odds ratio; P1: Control Men vs MFS Men; P2: Control Women vs MFS Women; CI: Confidence interval; SNP: Single nucleotide polymorphism; MFS: Marfan syndrome.