Table 2. Prevalence of control region heteroplasmy in mtDNA for buccal swab and blood tissue samples taken from the same individuals.
| Heteroplasmy | Buccal samples (n = 178) | Blood samples (n = 165) | ||||||
| y | n | Prevalence | y | n | Prevalence | p-value | ||
| All sites | 33 | 145 | 19% | 24 | 141 | 15% | 0.04 | |
| HVI | all | 14 | 165 | 8% | 0 | 165 | 0 | 1.7E-11 |
| 16093 | 13 | 165 | 7% | 0 | 165 | 0% | 3.6E-11 | |
| 16304 to 16320 | 1 | 177 | 1% | 0 | 165 | 0 | - | |
| 16111 | 0 | 178 | 0 | 0 | 165 | 0 | - | |
| 16124 to 16129 | 0 | 178 | 0 | 0 | 165 | 0 | - | |
| 16362 | 0 | 178 | 0 | 0 | 165 | 0 | - | |
| 16264 to 16278 | 0 | 178 | 0 | 0 | 165 | 0 | - | |
| HVII | all | 4 | 174 | 2% | 4 | 161 | 2% | 0.19 |
| 64 | 2 | 176 | 1% | 2 | 163 | 1% | 0.34 | |
| 189 | 2 | 176 | 1% | 2 | 163 | 1% | 0.34 | |
| 72 | 0 | 178 | 0 | 0 | 165 | 0 | - | |
| 73 | 0 | 178 | 0 | 0 | 165 | 0 | - | |
| 200 | 0 | 178 | 0 | 0 | 165 | 0 | - | |
| 247 | 0 | 178 | 0 | 0 | 165 | 0 | - | |
| VRI | 16519 | 0 | 178 | 0% | 0 | 165 | 0% | - |
| VRII | 523 to 524 | 25 | 153 | 14% | 22 | 143 | 13% | 0.49 |
| 414 | 0 | 178 | 0 | 0 | 165 | 0 | - | |
| 477 to 482 | 0 | 178 | 0 | 0 | 165 | 0 | - | |
| 489 to 493 | 0 | 178 | 0 | 0 | 165 | 0 | - | |
| 523 to 524 | 25 | 153 | 14% | 22 | 143 | 13% | 0.49 | |
All variants are base substitutions (at a single point or within a specified sequence range), except VRII 523 to 524, which is an insertion-deletion. p-values are reported for a 1df robust logistic regression (standard error of the beta coefficient calculated clustered by twin pair) contrasting prevalence of heteroplasmy between buccal and blood samples. HVI = hyper-variable region I; HVII = hyper-variable region II; VRI = variable region I; VRII = variable region II.