Table 2.
Enrichment of Nonsynonymous Homozygous Derived Genotypes within ROHs
| Population | Allele Copies Odds Ratio | Allele Copies p Value | Variants Odds Ratio | Variants p Value | Homozygotes Odds Ratio | Homozygotes p Value |
|---|---|---|---|---|---|---|
| YRI | 1.059 | 0.664 | 1.048 | 0.762 | 1.129 | 0.417 |
| CEU | 1.203 | 0.105 | 1.208 | 0.138 | 1.252 | 0.082 |
| FIN | 0.937 | 0.324 | 0.92 | 0.265 | 1.003 | 0.957 |
| PEL | 0.986 | 0.797 | 0.972 | 0.638 | 1.038 | 0.54 |
| CLM | 0.99 | 0.755 | 0.964 | 0.337 | 1.066 | 0.097 |
| CO | 1.008 | 0.828 | 0.985 | 0.714 | 1.074 | 0.097 |
| CR | 1.015 | 0.607 | 0.991 | 0.806 | 1.085 | 0.0169∗ |
| CO & CR | 1.025 | 0.283 | 1.002 | 0.806 | 1.088 | 0.0011∗ |
| MXL | 1.112 | 0.052 | 1.089 | 0.169 | 1.19 | 0.005∗ |
| PUR | 0.981 | 0.635 | 0.965 | 0.411 | 1.047 | 0.301 |
This table summarizes the results of our enrichment analyses for each population sampled as well as a combined super-population of Colombians and Costa Ricans (CO & CR). Odds ratios were calculated as the ratio of nonsynonymous variants relative to synonymous variants within versus outside of an ROH for each counting method. Asterisk (∗) used to indicate significant p values after permutation test was conducted (see Subjects and Methods). Population abbreviations are as in Figure 1.