02 November 2020 : Clinical Research
Detecting Rare Variants and Heteroplasmy of Mitochondrial DNA from High-Throughput Sequencing in Patients with Coronary Artery Disease
Qian Jia12ABE, Lu Xu1CE, Juan Shen3CD, Yanping Wei3CD, Huaiqian Xu3B, Jinlong Shi24D, Zhilong Jia24D, Xiaojing Zhao12D, Chunlei Liu12D, Qin Zhong12F, Yaping Tian1AD, Kunlun He12A*DOI: 10.12659/MSM.925401
Med Sci Monit 2020; 26:e925401
Table 3 Integrated analysis of variants in tRNA genes with the previously reported samples. These variants came from a published Chinese CAD study in mitochondrial tRNA gene with 80 patients and 512 controls [16].
| Variants | Refer/Alt | Cons | WC Base Pairs | Our study | Reported study [16] | Public database [17] | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| 185 cases | 180 controls | 80 cases | 512 controls | 2704 controls | |||||||
| 4386 | T/C | 0.75 | 6 | 6 | 1 | 4 | 51 | ||||
| 5592 | A/G | 1.00 | G-C ↑ | 1 | 0 | 1 | 0 | 3 | |||
| 5821 | G/A | 0.63 | G-C ↓ | 2 | 4 | 1 | 12 | 14 | |||
| 14693 | A/G | 1.00 | 4 | 2 | 2 | 7 | 10 | ||||
| 15889 | T/C | 0.19 | U-A ↓ | 1 | 0 | 2 | 1 | 3 | |||
| 15927 | G/A | 0.69 | G-C ↓ | 2 | 5 | 4 | 7 | 44 | |||
| 15928 | G/A | 0.69 | G-C ↓ | 3 | 0 | 1 | 2 | 132 | |||
| 15951 | A/G | 0.56 | A-U ↓ | 1 | 5 | 1 | 2 | 22 | |||
| 4386 | T/C | 0.75 | 7 | 10 | 0.2740 | 1.82 | 7 | 61 | 0.3385 | 1.48 | |
| 5592 | A/G | 1.00 | G-C ↑ | 2 | 0 | 0.0782 | inf | 2 | 3 | 0.0451 | 8.59 |
| 5821 | G/A | 0.63 | G-C ↓ | 3 | 16 | 0.3065 | 0.48 | 3 | 30 | 0.7297 | 1.28 |
| 14693 | A/G | 1.00 | 6 | 9 | 0.3829 | 1.73 | 6 | 19 | 0.0074 | 4.11 | |
| 15889 | T/C | 0.19 | U-A ↓ | 3 | 1 | 0.0690 | 7.77 | 3 | 4 | 0.0105 | 9.70 |
| 15927 | G/A | 0.69 | G-C ↓ | 6 | 12 | 0.6018 | 1.29 | 6 | 56 | 0.4528 | 1.38 |
| 15928 | G/A | 0.69 | G-C ↓ | 4 | 2 | 0.0552 | 5.19 | 4 | 134 | 0.0434 | 0.37 |
| 15951 | A/G | 0.56 | A-U ↓ | 2 | 7 | 1.0000 | 0.73 | 2 | 29 | 1 | 0.88 |
| Cons – conservative; WC Base Pairs – Watson-Crick base pairs. | |||||||||||