Table 2 –
GWAS variants in mitonuclear genes associated with disease-related endophenotypes (see GWAS catalog (182) for references to primary literature).
| Gene | Endophenotype | SNP Risk Allele |
|---|---|---|
| Redox | ||
| CYBA | Glycated hemoglobin levels | rs9933309 |
| MSRA | Adiposity | rs7826222 |
| Proteostasis | ||
| MRPL33 | Fasting glucose-related traits | rs3736594 |
| TOMM20 | Total cholesterol, LDL cholesterol | rs514230, rs514230 |
| TUFM | Body mass index | rs7359397 |
| PHB | Diastolic blood pressure | rs16948048 |
| Metabolic | ||
| ACAD11 | HDL cholesterol, LDL cholesterol | rs17404153 |
| ACYP2 | Telomere length | rs11125529 |
| ALOX5 | Cholesterol, total; HDL cholesterol | rs970548 |
| CERS2 | LDL cholesterol | rs267733 |
| CPS1 | HDL cholesterol | rs1047891 |
| Homocysteine levels | rs7422339, rs1047891 | |
| CPT1A | Lipid metabolism phenotypes (LA/PUFA) | rs17610395 |
| FADS1 | Fasting glucose-related traits (FPG, HOMA-B, interaction with BMI) | rs174550 |
| Heart rate | rs174549, rs174547 | |
| Plasma EPA, ALA, DPA levels | rs174550, rs174547, rs174547 | |
| Total cholesterol, HDL cholesterol, LDL cholesterol | rs174546, rs174547, rs174548 | |
| Lipid metabolism phenotypes (LA/PUFA) | rs174547 | |
| Plasma omega-6 polyunsaturated fatty acid levels | rs174550, rs2727270, rs174547, rs174555 | |
| Triglycerides | rs174546, rs174547, rs174548 | |
| GCK | Fasting glucose-related traits (HOMA-B, FPG, BMI interaction, glucose) | rs4607517 |
| Glycated hemoglobin levels | rs1799884, rs730497 | |
| Glycemic traits (1-hPG, 2-hPG, FPG) | rs1799884 | |
| GPAM | Total cholesterol, LDL cholesterol | rs2255141 |
| HK1 | Glycated hemoglobin levels | rs16926246, rs7072268 |
| HMGCR | Cholesterol, total; LDL cholesterol | rs12916, rs10045497, rs3846662; rs12654264, rs3846663, rs12916, rs3846662, rs7703051, rs10045497, rs12654264 |
| Body mass index | rs2112347 | |
| LIPC | Cholesterol, total; HDL cholesterol | rs1532085; rs10468017, rs1532085, rs1800588, rs10468017, rs261334, rs4775041, rs1077835, rs1532085, rs1077834 |
| Lipid metabolism phenotypes | rs1532085, rs1532085, rs35853021, rs1532085, rs2043085, rs588136 | |
| Phospholipid levels (plasma) | rs10468017 | |
| Triglycerides | rs1532085, rs1532085, rs4775041 | |
| SPTLC3 | LDL cholesterol | rs364585 |