Table 2.
Comparison of CNV Burden per Genome between 192 RHD Cases and 4,733 Controls Matched for Ethnicity and Genotyping Platform
| Cases (n = 192) | Controls (n = 4,733) | Asymptotic p Valuea | Empiric p Valueb | OR (95% CI) | p Value (Fisher exact) | |
|---|---|---|---|---|---|---|
| Metric | ||||||
| Average CNV rate | 1.83 | 1.68 | 0.13 | 0.21 | - | - |
| Average CNV size (median) in kb | 366.1 (218.7) | 197.1 (161.1) | 1.5 × 10−6 | <1 × 10−6 | - | - |
| Average largest CNV size (median) in kb | 518.5 (289.6) | 260.4 (178.5) | 2.7 × 10−6 | 3.0 × 10−6 | - | - |
| Average total CNV span (median) in kb | 868.1 (417.0) | 476.1 (234.2) | 2.1 × 10−5 | 1.9 × 10−5 | - | - |
| Distribution of the Largest CNV per Genome | ||||||
| Individuals with largest CNV size > 1,000 kb | n = 17 (18.9%) | n = 142 (3.0%) | - | - | 3.14 (1.74–5.35) | 1.4 × 10−4 |
| Individuals with largest CNV size > 500 kb | n = 49 (29.5%) | n = 629 (13.3%) | - | - | 2.24 (1.56–3.15) | 8.8 × 10−6 |
| Individuals with largest CNV size > 250 kb | n = 105 (54.7%) | n = 1,774 (37.5%) | - | - | 2.01 (1.49–2.72) | 2.2 × 10−6 |
The following abbreviations are used: OR, odds ratio; CI, confidence interval; and CNV, copy-number variant.
a
Nonparametric (Mann-Whitney U) test for quantitative variables, Poisson-rate ratio test for rates, and Fisher’s exact test for proportions.
b
Based on 1,000,000 permutations.