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 5 The association signal for mitochondrial rRNA and protein-coding variants. Joint analysis of variants in our study with an additional 2704 controls [17].
| Variants | Refer/Alt | WC Base Pairs | Cons | Discovery | Validation | Combined | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| 85 cases | 80 controls | 100 cases | 100 controls | 185 cases | 180 controls | P | OR | ||||
| 681 | T/C | U-A ↓ | 0.81 | 2 | 1 | 6 | 0 | 8 | 1 | 0.0369 | 8.1 |
| 735 | A/G | G-C ↑ | 0.88 | 2 | 0 | 0 | 0 | 2 | 0 | 0.4987 | Inf |
| 752 | C/T | 0.88 | 3 | 5 | 3 | 2 | 6 | 7 | 0.7842 | 0.8 | |
| 789 | T/C | 0.81 | 2 | 0 | 0 | 0 | 2 | 0 | 0.4987 | Inf | |
| 951 | G/A | 0.81 | 1 | 0 | 0 | 2 | 1 | 2 | 0.6189 | 0.5 | |
| 1095 | T/C | U-A ↓ | 0.94 | 3 | 0 | 0 | 6 | 3 | 6 | 0.3318 | 0.5 |
| 1762 | A/G | 0.88 | 1 | 0 | 0 | 0 | 1 | 0 | 1 | Inf | |
| 1914 | A/G | 0.94 | 1 | 0 | 0 | 0 | 1 | 0 | 1 | Inf | |
| 2281 | A/C, G | 0.81 | 1 | 0 | 1 | 0 | 2 | 0 | 0.4987 | Inf | |
| 2363 | A/G | U-A ↓ | 0.88 | 1 | 0 | 0 | 0 | 1 | 0 | 1 | Inf |
| 2412 | A/G | U-A ↓ | 0.81 | 2 | 0 | 0 | 0 | 2 | 0 | 0.4987 | Inf |
| 2757 | A/G | 0.81 | 1 | 0 | 0 | 0 | 1 | 0 | 1 | Inf | |
| 6340 | C/T | 0.81 | 1 | 0 | 0 | 0 | 1 | 0 | 1.00 | Inf | |
| 8459 | A/G | 0.81 | 1 | 0 | 1 | 2 | 2 | 2 | 1.00 | 1.0 | |
| 8572 | G/A | 0.88 | 0 | 2 | 1 | 1 | 1 | 3 | 0.37 | 0.3 | |
| 8854 | G/A | 0.88 | 1 | 0 | 0 | 0 | 1 | 0 | 1.00 | Inf | |
| 8921 | G/A | 1.00 | 1 | 0 | 0 | 0 | 1 | 0 | 1.00 | Inf | |
| 10086 | A/G | 0.94 | 1 | 0 | 0 | 0 | 1 | 0 | 1.00 | Inf | |
| 11253 | T/C | 0.81 | 1 | 2 | 0 | 0 | 1 | 2 | 0.62 | 0.5 | |
| 14225 | C/T | 0.75 | 1 | 0 | 0 | 0 | 1 | 0 | 1.00 | Inf | |
| 14337 | C/T | 1.00 | 0 | 1 | 1 | 2 | 1 | 3 | 0.37 | 0.3 | |
| 15402 | C/T | 0.94 | 2 | 0 | 1 | 0 | 3 | 0 | 0.25 | Inf | |
| 15617 | G/A | 1.00 | 1 | 0 | 0 | 0 | 1 | 0 | 1.00 | Inf | |
| 681 | T/C | U-A ↓ | 0.81 | 11 | 1.01E-05 | 10.8 | – | – | RNR1 | 12S rRNA | - |
| 735 | A/G | G-C ↑ | 0.88 | 3 | 3.20E-02 | 10.5 | – | – | RNR1 | 12S rRNA | - |
| 752 | C/T | 0.88 | 20 | 1.25E-02 | 3.5 | – | – | RNR1 | 12S rRNA | - | |
| 789 | T/C | 0.81 | 1 | 1.04E-02 | 31.4 | – | – | RNR1 | 12S rRNA | - | |
| 951 | G/A | 0.81 | 8 | 4.96E-01 | 1.6 | – | – | RNR1 | 12S rRNA | - | |
| 1095 | T/C | U-A ↓ | 0.94 | 5 | 4.79E-02 | 4.3 | – | – | RNR1 | 12S rRNA | - |
| 1762 | A/G | 0.88 | 0 | 6.03E-02 | Inf | – | – | RNR2 | - | ||
| 1914 | A/G | 0.94 | 0 | 6.03E-02 | Inf | – | – | RNR2 | - | ||
| 2281 | A/C, G | 0.81 | 2 | 2.00E-02 | 15.7 | – | – | RNR2 | 16S rRNA | - | |
| 2363 | A/G | U-A ↓ | 0.88 | 0 | 6.03E-02 | Inf | – | – | RNR2 | - | |
| 2412 | A/G | U-A ↓ | 0.81 | 0 | 3.62E-03 | Inf | – | – | RNR2 | - | |
| 2757 | A/G | 0.81 | 3 | 2.20E-01 | 5.2 | – | – | RNR2 | 16S rRNA | - | |
| 6340 | C/T | 0.81 | 3 | 2.20E-01 | 5.2 | N | D | COX1 | p.T146I | Prostate Cancer | |
| 8459 | A/G | 0.81 | 0 | 2.00E-02 | 15.7 | P | N | ATP8 | p.N32D | - | |
| 8572 | G/A | 0.88 | 11 | 6.07E-01 | 1.1 | P | N | ATP6 | p.G16S | - | |
| 8854 | G/A | 0.88 | 3 | 2.20E-01 | 5.2 | N | D | ATP6 | p.A110T | - | |
| 8921 | G/A | 1.00 | 1 | 1.17E-01 | 15.6 | P | D | ATP6 | p.G132D | - | |
| 10086 | A/G | 0.94 | 26 | 1.00E+00 | 0.6 | P | D | ND3 | p.N10D | Hypertensive end-stage renal disease | |
| 11253 | T/C | 0.81 | 10 | 5.55E-01 | 1.3 | N | D | ND4 | p.I165T | LHON; PD | |
| 14225 | C/T | 0.75 | 0 | 6.03E-02 | Inf | P | N | ND6 | p.R150H | - | |
| 14337 | C/T | 1.00 | 3 | 3.53E-01 | 2.6 | P | N | ND6 | p.V113M | - | |
| 15402 | C/T | 0.94 | 2 | 1.97E-03 | 23.7 | P | N | CYTB | p.T219I | - | |
| 15617 | G/A | 1.00 | 0 | 6.03E-02 | Inf | P | N | CYTB | p.V291I | - | |
| Cons – conservative; WC Base Pairs – Watson-Crick base pairs. | |||||||||||