Table 1.
Important variants/gene expression alterations in mtDNA genes, nuclear genes regulating mtDNA and genes sharing mitochondrial localization involved in influencing ovarian cancer risk and racial disparity
| Gene characteristics | Genetic region | Gene variants/expression |
|---|---|---|
| mtDNA-encoded genes | D-loop | SNP sites at np 73A/G, 207G/A and 23C/del, 254T/G, 259A/G, 275G/A, 366G/A, 11C/G, 414T/G, 418C/G, 441C/A, 476C/A, 524C/del, 530C/T, 249A/del and 263A/G, 309 C/T, 324 C/G and 446 C/A, D310, 1648delT, 1653A/delT, 1659delT, snp sites at 248, 524 and 16 304 |
| ND2 | G5460A, G5471A | |
| ND4 | SNP rs2857285, 10875TC (p.39LeuPro) | |
| NC5 | CCins at 5899 | |
| TA | C5603T, A5612C, T5655C | |
| TD | C ins at 7505, G7520A, A7523G, C7520T | |
| TG | T del 10045–10046 | |
| 12S rRNA | A772T, 773delT, and 780delC | |
| CO1 | C7256T, G7520A, C7028T, T6777C, G5949A, G5950A, C5953A, A6022G, T ins at 6044 C6054T, C7029G. C7174T. C7275T |
|
| CO III |
C9500T, T9540C, C9391A, A9436T, G9438A C9441A. C9485G, C9488G, T9496C, T9601C, C9520G, A9855G, C9857T |
|
| ATP8 | A8399G, A8411G, T8548G, T8588C | |
| ATP6 | A8860G, T8548G | |
| Nuclear DNA-encoded genes involved in mitochondrial biogenesis/OXPHOS complexes/mitochondrial transport and proteins with mitochondrial localization | PGC1α, TFAM, NRF1, TFB1M | Numerous SNPs |
| ESR2 | rs1256062, rs1256061, and rs12435857 | |
| TUFM | SNP rs9972768 | |
| Nuclear genes encoding OXPHOS complexes | Numerous genes upregulated | |
| SLC25A45 | SNP rs681309 | |
| MGST1 | SNP rs6488840 | |
| AR | Short CAG and GGC repeat length |
Alterations in bold are involved in racial disparity.