02 November 2020: Lab/In Vitro Research
Detecting Rare Variants and Heteroplasmy of Mitochondrial DNA from High-Throughput Sequencing in Patients with Coronary Artery Disease
Qian Jia 12ABE* , Lu Xu 1CE* , Juan Shen 3CD , Yanping Wei 3CD , Huaiqian Xu 3B , Jionglong Shi 24D , Zhilong Jia 24D , Xiaojing Zhao 12D , Chunlei Liu 12D , Qin Zhong 12F , Yaping Tian 1AD* , Kunlun He 12A*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. | |||||||||||