Table 3. Summary of significant mtSNPs.
| Chip | Bp rs_number | Alleles (maf) | Point mutation | βSNP | Pnominal (Padj) | Overlap Chip: Pnominal | Protein: Gene |
|---|---|---|---|---|---|---|---|
| HDL | |||||||
| Affy.6.0 | 3285 rs28537613 | T→A (n.a.) | - | 3.49 | 2.2x10-07 (8.3x10-05) | - | tRNALeu(UUR): MT-TL1 |
| Affy.6.0 | 3336 rs28416101 | T→G (0.0033) | missense | 0.91 | 1.2x10-06 (4.8x10-04) | Axiom: 0.022 | ND1: MT-ND1; subunit of NADH dehydrogenase, complex I |
| Affy.6.0 | 5285 rs28357986 | A→G (0.0030) | synonymous | -4.63 | 8.9x10-05 (3.6x10-02) | Axiom: 0.013 | ND2: MT-ND2; subunit of NADH dehydrogenase, complex I |
| Affy.6.0 | 6591 rs28483589 | C→A (n.a.) | missense | -3.09 | 4.5x10-05 (1.8x10-02) | - | COI: gene MT-CO1; subunit of cytochrome c oxidase, complex IV |
| Affy.6.0 | 6671 rs1978028 | T→C (0.0189) | synonymous | -2.09 | 9.1x10-05 (3.7x10-2) | - | COI: gene MT-CO1; subunit of cytochrome c oxidase, complex IV |
| Affy.6.0 | 9163 rs2298010 | G→A (0.0004) | missense | 4.47 | 1.5x10-05 (6.3x10-03) | - | ATP6: MT-ATP6; subunit of ATP synthase, complex V |
| Affy.6.0 | 13855 rs3925298 | C→T (0.0011) | synonymous | -5.19 | 4.1x10-05 (1.7x10-2) | - | ND5: MT-ND5; subunit of NADH dehydrogenase, complex I |
| Illum. Exome | 13958 rs202081448 | G→C (0.0037) | missense | -2.32 | 1.90x10-04 (4.2x10-2) | - | ND5: MT-ND5; subunit of NADH dehydrogenase, complex I |
| Affy.6.0 | 14000 rs28359185 | T→A (0.0100) | missense | 4.48 | 9.4x10-05 (3.9x10-2) | Axiom: 8.3x10-03 Exome: 2.1x10-03 Metabo: 1.0x10-03 | ND5: MT-ND5; subunit of NADH dehydrogenase, complex I |
| Affy 6.0 | 14580 rs28496897 | A→G (0.0004) | synonymous | 1.87 | 3.5x10-05 (1.4x10-02) | - | ND6: MT-ND6; subunit of NADH dehydrogenase, complex I |
| Triglycerides | |||||||
| Illum. Exome | 15074 rs201169089 | T→C (n.a.) | missense | -14.9 | 7.5x10-05 (1.6x10-02) | - | CYTB: MT-CYB, cytochrome c reductase, complex III |
Genomic position in base pairs (bp), alleles, rs_number, and point mutation are based on the NCBI dbSNP GRCh38 human genome assembly (rCRS, GeneBank ID J01415.2). Alleles are given in terms of major→minor allele. The population minor allele frequency “maf” is based on 2,704 individuals provided by mitomap (http://www.mitomap.org). Note that these allele frequency estimates do not account for the presence of heteroplasmy. An estimated effect size (βSNP) < 0 indicates that the risk allele is the minor allele. Nominal p-values and adjusted p-values are provided. mtSNPs mt3336, mt5285 and mt14000 are also included in other chips.