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