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 4 Frequency comparison of tRNA variants with an additional 2704 controls from the mtDB database [17]. These tRNA variants were absent from the published paper [16] but were detected in our study.
| Variants | Refer/Alt | Cons | WC Base Pairs | Discovery | Validation | Combined | Our study + public database [17] (185 cases vs. 2704+180 controls) | |||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 85 cases | 80 controls | 100 cases | 100 controls | 185 cases | 180 controls | P | 2884 controls | P | OR | Gene | ||||
| 14696 | A/C,G | 0.81 | G-C ↑ | 1 | 0 | 0 | 0 | 1 | 0 | 1 | 6 | 0.3532 | 2.61 | tRNA-Glu |
| 8334 | G/A | 1.00 | 1 | 0 | 0 | 0 | 1 | 0 | 1 | 1 | 0.1169 | 15.63 | tRNA-Lys | |
| 5788 | T/C | 1.00 | 1 | 0 | 0 | 0 | 1 | 0 | 1 | 6 | 0.3532 | 2.61 | tRNA-Cys | |
| 5783 | G/A | 0.94 | G-C ↓ | 1 | 0 | 0 | 0 | 1 | 0 | 1 | 1 | 0.1169 | 15.63 | tRNA-Cys |
| 5628 | T/C | 0.94 | U-A ↓ | 3 | 0 | 1 | 0 | 4 | 0 | 0.1231 | 4 | 0.0007 | 15.86 | tRNA-Ala |
| 5587 | T/C | 0.94 | 1 | 0 | 0 | 2 | 1 | 2 | 0.6189 | 1 | 0.2203 | 5.21 | tRNA-Ala | |
| 5539 | A/G | 1.00 | G-C ↓ | 1 | 0 | 0 | 1 | 1 | 1 | 1 | 3 | 0.2673 | 3.91 | tRNA-Trp |
| 5514 | A/G | 0.88 | U-A ↓ | 1 | 2 | 0 | 0 | 1 | 2 | 0.6189 | 0 | 0.1702 | 7.82 | tRNA-Trp |
| 606 | A/G | 0.56 | U-A ↓ | 1 | 0 | 0 | 0 | 1 | 0 | 1 | 1 | 0.1169 | 15.63 | tRNA-Phe |
| Cons – conservative; WC Base Pairs – Watson-Crick base pairs. | ||||||||||||||