Table 1.
Risk gene variants associated with T1D (discussed in this review). For each gene variant the variant ID, risk allele frequency and odd ratio are presented.
| Gene | Variant ID (RSID) | OriginalPub.* | Frequency** | Odds Ratio | Assoc. p-value | Publication*** | |
|---|---|---|---|---|---|---|---|
| HLA class II | DRB1* 04:05-DQA1*03:02-DQB1*03:02 | 11.370 | 4.000 x 10^-5 | Erlich H et al., 2008 (61) | |||
| DRB1* 04:01-DQA1*03:01-DQB1*03:02 | 8.390 | 6.000 x 10^-36 | Erlich H et al., 2008 (61) | ||||
| DRB1* 03:01-DQA1*05:01-DQB1*02:01 | 3.640 | 2.000 x 10^-22 | Erlich H et al., 2008 (61) | ||||
| DRB1* 04:02-DQA1*03:01-DQB1*03:02 | 3.630 | 3.000 x 10^-4 | Erlich H et al., 2008 (61) | ||||
| INS | rs689 | (62) | A –> T | T: 68% | 2.256 | 2.161 x 10^-135 | Inshaw JRJ et al., 2021 (63) |
| rs3842752 | (56) | G –> A | A: 20% | 0.600 | 2.310 x 10^-14 | Reddy et al., 2011 (56) | |
| rs3842753 | (57) | T –> G | G:70% | 0.580 | 2.180 × 10-32 | Howson et al., 2009 (57) | |
| PTPN22 | rs2476601 | (64) | A –> T | T: 9% | 1.890 | 1.000 x 10^-100 | Onengut-Gumuscu S et al., 2015 (11) |
| PTPN2 | rs1893217 | (65) | A –> G | G: 15% | 1.210 | 1.200 x 10^-15 | Onengut-Gumuscu S et al., 2015 (11) |
| IFIH1 | rs2111485 | (66) | A –> G | G: 57% | 1.171 | 1.892 x 10^-10 | Forgetta V et al., 2020 (67) |
| rs1990760 | (68) | C –> T | T: 57% | 1.180 | 2.000 x 10^-11 | Todd JA et al., 2007 (69) | |
| rs3747517 | (66) | T –> C | C: 71% | 1.700 | 6.000 x 10^-4 | Liu S el al., 2009 (70) | |
| rs13422767 | (70) | G –> A | A: 15% | 1.799 | 1.000 x 10^-4 | Zurawek M et al., 2015 (71) | |
| CTLA4 | rs231775 | (72) | A –> G | G: 37% | 2.000 | 1.000 x 10^-2 | Goralczyk A et al., 2018 (73) |
| rs5742909 | (74) | C –> T | T: 8% | 1.500 | 2.000 x 10^-2 | Chen S et al., 2019 (75) | |
| rs3087243 | (69) | G –> A | A: 44% | 0.840 | 7.400 x 10^-21 | Onengut-Gumuscu S et al., 2015 (11) | |
| IL2RA | rs11594656 | (76) | T –> A | T: 77% | 1.220 | 1.920 x 10^-28 | Lowe CE et al., 2007 (76) |
| rs2104286 | (77) | T –> C | C: 24% | 0.880 | 2.100 x 10^-2 | Espino-Paisan L et al., 2011 (78) | |
| rs12722495 | (79) | T –> C | C: 8% | 0.620 | 1.740 x 10^-30 | Smyth DJ et al., 2008 (79) | |
| rs61839660 | (76) | C –> T | T: 9% | 0.620 | 2.800 × 10^−39 | Onengut-Gumuscu S et al., 2015 (11) | |
| CD226 | rs763361 | (69) | C –> T | T: 48% | 1.120 | 1.000 x 10^-9 | Plagnol V et al., 2011 (80) |
Data in this table has been collected using the database on https://platform.opentargets.org for type 1 diabetes mellitus. Genetic associations were selected as data type and Immune system as pathway types. Per gene variant the odds ratio is derived from the study listed in the OT Genetics Portal. *The original paper reporting the association between the risk variant and T1D. **Frequency of a risk allele in the world. ***Publications have been cited which reported the OR and p-value in the table.