Table 3.
Mitochondrial position | Region | Alleles | Gene | Prevalence (germline Caucasian) | Prevalence in our samples | Adjusted p value | Clinical significance | |||
---|---|---|---|---|---|---|---|---|---|---|
Ref | Alt | HN (%) | GO (%) | GH (%) | ||||||
chrM_14798 | Non-syn | T | C | MT-CYB | 0.107 | 0.36 | 0.05 | 0.08 |
GH vs. HN: 0.0342 GO vs. HN: 0.0166 |
NA |
chrM_4216 | Non-syn | T | C | MT-ND1 | NA | 0.55 | 0.27 | 0.08 | GH vs. HN: 0.0225 | Leber’s optic atrophy |
chrM_15452 | Non-syn | C | A | MT-CYB | 0.144 | 0.55 | 0.27 | 0.08 | GH vs. HN: 0.0225 | Neoplasm of ovary (likely pathogenic) |
chrM_11251 | Syn | A | G | MT-ND4 | NA | 0.55 | 0.27 | 0.08 | GH vs. HN: 0.0225 | NA |
chrM_185 | Non-coding | G | A | – | NA | 0.27 | 0.00 | 0.08 | GO vs. HN: 0.0142 | NA |
chrM_188 | Non-coding | A | G | – | NA | 0.18 | 0.00 | 0.00 |
GH vs. HN: 0.0246 GO vs. HN: 0.0249 |
NA |
chrM_16093 | Non-coding | T | C | – | NA | 0.18 | 0.00 | 0.00 |
GH vs. HN: 0.0246 GO vs. HN: 0.0249 |
NA |
chrM_16126 | Non-coding | T | C | – | NA | 0.55 | 0.27 | 0.08 | GH vs. HN: 0.0225 | NA |
MT-CYB Mitochondrially encoded cytochrome B, MT-ND1 mitochondrially encoded NADH:Ubiquinone Oxidoreductase Core Subunit 1, MT-ND4 mitochondrially encoded, NADH Ubiquinone Oxidoreductase Core Subunit 4, NA not available