Table 1.
Autophagy-related genes genetically associated with T1D and T2D. Human autophagy-related genes were extracted from the Human Autophagy Database on 18 March 2023 (http://autophagy.lu/) and the Autophagy Database on 18 March 2023 (http://www.tanpaku.org/autophagy/) and checked for the genetic association to T1D and/or T2D based on the most recent GWAS meta-analyses [132,174]. Expression levels are shown as counts per million (CPM) in human islets and FACS-sorted human β cells based on data from previously published studies [175,176,177]. A CPM > 1 was used as the cut-off level for expression. Regulation by free fatty acids (FFA) and/or pro-inflammatory cytokines (CYT) was based on previously published studies in human islets [142,178].
| Gene | Genetic Association |
Expression in Human Islets (Average CPM) |
Expression in Human β Cells (Average CPM) |
Regulated by β Cell Stressors in Human Islets (FFA/CYT) |
Cellular Localization |
|---|---|---|---|---|---|
| ANK1 | T2D | 7.35 | 26.55 | Membrane | |
| CAMK1D | T2D | 21.68 | 19.86 | Cytoplasm | |
| CDKN1B | T2D | 30.71 | 63.32 | Nucleus | |
| CDKN2A | T2D | 7.64 | 13.58 | FFA | Nucleus |
| CELF1 | T2D | 181.06 | 176.65 | CYT | Cytoplasm |
| CTSB | T1D | 244.49 | 343.90 | CYT | Cytoplasm |
| INS | T1D, T2D | 6889.44 | 9219.81 | Extracellular Space | |
| INSR | T2D | 124.92 | 53.21 | Membrane | |
| IRS1 | T2D | 52.77 | 21.37 | Cytoplasm | |
| IRS2 | T2D | 117.07 | 83.20 | FFA | Cytoplasm |
| ITPR2 | T2D | 28.51 | 59.25 | Cytoplasm | |
| MAP2K5 | T2D | 10.71 | 12.43 | Cytoplasm | |
| MAP2K7 | T2D | 50.40 | 20.02 | Cytoplasm | |
| MAP3K14 | T1D | 48.85 | 25.07 | Cytoplasm | |
| MAPK3 | T1D | 48.00 | 21.80 | Cytoplasm | |
| MARK3 | T2D | 89.10 | 83.86 | CYT | Cytoplasm |
| MTMR9 | T1D | 23.24 | 66.30 | Cytoplasm | |
| MYC | T1D | 79.04 | 4.50 | FFA, CYT | Nucleus |
| NFKB1 | T1D | 180.36 | 40.06 | FFA, CYT | Nucleus |
| PTEN | T2D | 80.47 | 281.77 | Cytoplasm | |
| SEC16B | T2D | - | 1.54 | Nucleus | |
| SLC1A2 | T1D | 9.65 | 12.91 | Membrane | |
| SLC7A7 | T2D | 7.38 | 9.28 | CYT | Membrane |
| SPG7 | T2D | 66.67 | 83.12 | Cytoplasm | |
| TBC1D4 | T1D | 39.84 | 142.60 | CYT | Cytoplasm |
| TRAF1 | T1D | 80.53 | 13.98 | Cytoplasm | |
| VEGFA | T2D | 316.32 | 537.68 | Extracellular Space |