Table 1.
AIS is associated with novel variants in musculoskeletal collagen genes
| AIS cases (n = 391) | In-house controls |
EVS controls |
||||
|---|---|---|---|---|---|---|
| n = 843 | P-value | n = 4300 | Odds ratio (95% CI) | P-value | ||
| COL1A1 | 5 (1.3%) | 10 (1.1%) | 0.59 | 27 (0.6%) | 1.9 (0.57–5.1) | 0.2 |
| COL1A2 | 4 (1%) | 6 (0.7%) | 0.44 | 40 (0.9%) | 1.0 (0.26–2.8) | 0.79 |
| COL2A1 | 8 (2%) | 6 (0.7%) | 0.05 | 41 (1%) | 2.0 (0.81–4.4) | 0.07 |
| COL3A1 | 6 (1.5%) | 3 (0.4%) | 0.04 | 32 (0.7%) | 1.9 (0.65–1.14) | 0.14 |
| COL5A1 | 9 (2.3%) | 14 (1.7%) | 0.34 | 78 (1.8%) | 1.2 (0.5–2.4) | 0.57 |
| COL5A2 | 11 (2.8%) | 9 (1.1%) | 0.04 | 47 (1.1%) | 2.4 (1.1–4.8) | 0.02 |
| COL5A3 | 11 (2.8%) | 5 (0.6%) | 0.003 | 47 (1.1%) | 2.4 (1.1–4.8) | 0.02 |
| COL6A1 | 6 (1.5%) | 6 (0.7%) | 0.17 | 54 (1.3%) | 1.1 (0.4–2.7) | 0.65 |
| COL6A2 | 6 (1.5%) | 13 (1.5%) | 0.64 | 75 (1.7%) | 0.84 (0.29–1.89 | 0.84 |
| COL6A3 | 18 (4.6%) | 26 (3.1%) | 0.17 | 118 (2.7%) | 1.6 (0.9–2.6) | 0.09 |
| COL9A1 | 1 (0.3%) | 9 (1.1%) | 0.98 | 34 (0.8%) | 0.3 (0.01–1.8) | 0.36 |
| COL9A2 | 4 (1%) | 1 (0.1%) | 0.04 | 14 (0.3%) | 2.9 (0.7–9.4) | 0.07 |
| COL9A3 | 7 (1.8%) | 8 (0.9%) | 0.19 | 27 (0.6%) | 2.68 (0.98–6.3) | 0.03 |
| COL10A1 | 1 (0.3%) | 3 (0.4%) | 0.8 | 23 (0.5%) | 0.45 (0.01–2.8) | 0.72 |
| COL11A1 | 9 (2.3%) | 8 (0.9%) | 0.07 | 43 (1%) | 2.2 (0.9–4.5) | 0.05 |
| COL11A2 | 11 (2.8%) | 9 (1.1%) | 0.04 | 29 (0.7%) | 3.9 (1.8–8.1) | 5 × 10−4 |
| COL12A1 | 9 (2.3%) | 10 (1.2%) | 0.14 | 51 (1.2%) | 1.8 (0.8–3.8) | 0.11 |
| Total | 126 (32%) | 146 (17%) | 3 × 10−8 | 780 (18%) | 1.9 (1.6–2.4) | 2 × 10−9 |
Shown are minor allele counts for each gene with carrier percentages in parenthesis. P-values were calculated using a two-sided Fisher's exact test. Odds ratios are calculated for AIS cases versus EVS controls. EVS, NHLBI Exome Variant Server. Significant P-values before multiple test correction are in bold.