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 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. | ||||||||||||||