Table 2 Frequency of mtDNA ATPase 6/8 gene sequence alterations in 49 breast cancer patients
No | Locus | Allele | Nucleotide position | Nucleotide change | Amino acid change* | Mutation status** | Frequency | OR; 95% CI*** | P Value | Reference |
|---|---|---|---|---|---|---|---|---|---|---|
1 | MT-ATPase8 | A8384G | 8384 | A-G | T7A | Hm | 1 | 1.021;0.980-1.063 | 0.315 | NR**** |
2 | MT-ATPase6 | T8542C | 8542 | T-C | F6L | Hm | 1 | 1.021;0.980-1.063 | 0.315 | NR |
3 | MT-ATPase8 | T8542C | 8542 | T-C | C59C | Hm | 1 | 1.021; 0.980-1.063 | 0.315 | NR |
4 | MT-ATPase6 | G8557A | 8557 | G-A | A11T | Hm | 1 | 1.021; 0.980-1.063 | 0.315 | |
5 | MT-ATPas8 | G8557A | 8557 | G-A | L64L | Hm | 1 | 1.021; 0.980-1.063 | 0.315 | Alzheimer's disease [40] |
6 | MT-ATPase6 | T8567C | 8567 | T-C | I14T | Hm | 1 | 1.021; 0.980-1.063 | 0.315 | Parkinson's disease [42] |
7 | MT-ATPas8 | T8567C | 8567 | T-C | S68P | Hm | 1 | OR 1.021;: 0.980-1.063 | 0.315 | Parkinson's disease [49] |
8 | MT-ATPase6 | G8572A | 8572 | G-A | G16S | Hm | 1 | OR 1.021; 0.980-1.063 | 0.315 | Thyroid tumor [50] |
9 | MT-ATPas8 | G8572A | 8572 | G-A | G69S | Hm | 1 | 1.021; 0.980-1.063 | 0.315 | Colonic crypts cancer [34] |
10 | MT-ATPase6 | C8684T | 8684 | C-T | T53I | Hm | 1 | 1.021; 0.980-1.063 | 0.315 | Multiple Sclerosis [51], Ataxia telangiectasia [21], Huntington [52], Autism [53], Osteosarcoma [54], |
11 | MT-ATPase6 | T8697C | 8697 | T-C | I24T | Hm | 1 | 1.021; 0.980-1.063 | 0.315 | Thyroid tumor [50], Multiple Sclerosis [51], Ataxia telangiectasia [21], Breast cancer [30], Colorectal adenomatous polyps [40] |
12 | MT-ATPase6 | A8701G | 8701 | A-G | T59A | Hm | 2 | 1.043; 0.984-1.105 | 0.153 | Thyroid tumor [50], Ataxia telangiectasia [21], Breast cancer [27, 29], colorectal adenomatous polyps [38], Osteosarcoma [54] |
13 | MT-ATPase6 | T8777C | 8777 | T-C | F117F | Hm | 1 | 1.021; 0.980-1.063 | 0.315 | NR |
14 | MT-ATPase6 | C8794T | 8794 | C-T | H90Y | Hm | 2 | 1.043; 0.984-1.105 | 0.153 | Exercise Endurance/Coronary Atherosclerosis risk[32] |
15 | MT-ATPase6 | A8860G | 8860 | A-G | T112A | Hm | 49 | 0.000 | Colorectal cancer [36, 38], Ovarian cancer [37], Breast cancer [27, 29, 34], Human glioma cells [33], Osteosarcoma [54], Leber's hereditary optic neuropathy [35] | |
16 | MT-ATPase6 | T8877C | 8877 | T-C | F117F | Hm | 3 | 1.065; 0.992–1.114 | 0.079 | Leber's hereditary optic neuropathy [55] |
17 | MT-ATPase6 | T8881C | 8881 | T-C | S119P | Ht | 1 | 1.021; 0.980-1.063 | 0.315 | NR |
18 | MT-ATPase6 | C8910T | 8910 | C-T | F128F | Ht | 2 | 1.043; 95% CI: 0.984-1.105 | 0.153 | The southern belt of Siberia population [56] |
19 | MT-ATPase6 | G8950A | 8950 | G-A | V142I | Hm | 2 | 1.043; 0.984-1.105 | 0.153 | Huntington [54],LDYT [57] |
20 | MT-ATPase6 | G8994A | 8994 | G-A | L156L | Hm | 1 | 1.021; 0.980-1.063 | 0.315 | Ataxia telangiectasia [21], Breast cancer [27], Colorectal adenomatous polyps [38] |
21 | MT-ATPase6 | C9003A | 9003 | C-A | R159R | Hm | 1 | OR 1.021; 0.980-1.063 | 0.315 | NR |
22 | MT-ATPase6 | A9007G | 9007 | A-G | T161A | Hm | 1 | 1.021; 0.980-1.063 | 0.315 | Deafness associated [58] |
23 | MT-ATPase6 | A9041G | 9041 | A-G | H172R | Hm | 1 | 1.021; 0.980-1.063 | 0.315 | NR |
24 | MT-ATPase6 | G9055A | 9055 | G-A | A177T | Hm | 3 | 1.065; 0.992–1.114 | 0.079 | Colorectal cancer [36], Colorectal adenomatous polyps [38], Breast cancer [28, 30], Non-muscle invasive bladder cancer [44], Osteosarcoma [54], Pancreatic cancer [43], Parkinson's disease protective factor [45] |
25 | MT-ATPase6 | G9085A | 9085 | C-T | P187S | Hm | 1 | 1.021; 0.980-1.063 | 0.315 | NR |
26 | MT-ATPase6 | T9090C | 9090 | T-C | S188S | Hm | 1 | 1.021; 0.980-1.063 | 0.315 | Colorectal cancer [59] Leber's hereditary optic neuropathy [60] |
27 | MT-ATPase6 | T9148C | 9148 | T-C | L208L | Hm | 1 | 1.021; 0.980-1.063 | 0.315 | Occipital stroke [61] |
28 | MT-ATPase6 | C9168T | 9168 | C-T | F214F | Hm | 1 | 1.021; 0.980-1.063 | 0.315 | NR |