Table 2.
Candidates for core gene status
Gene symbol |
Transcription site |
trans-score |
cis-score |
T1D SNP associations within 200 kb of transcription site | Monogenic diabetes | ||||
---|---|---|---|---|---|---|---|---|---|
Chr | Start position (Mb) | Effective number of eQTLs | Log odds ratio | p value | Log odds ratio | p value | |||
Effective number of eQTLs > 5 and | |||||||||
CD1E | 1 | 158.35 | 6.5 | −0.12 | −0.02 | 0.3 | – | – | |
CD247 | 1 | 167.43 | 5.8 | −0.13 | 0.02 | 0.4 | – | – | |
CTLA4 | 2 | 203.87 | 7.6 | 0.21 | −0.08 | CTLA4 | + | ||
CD5 | 11 | 61.10 | 5.5 | 0.20 | −0.01 | 0.5 | SLC15A3 | – | |
IL10RA | 11 | 117.99 | 5.7 | 0.17 | −0.02 | 0.2 | – | – | |
MEOX1 | 17 | 43.64 | 5.5 | −0.14 | 0.02 | 0.2 | – | – | |
LGALS3BP | 17 | 78.97 | 5.3 | 0.15 | 0.00 | 0.8 | – | – | |
Monogenic cause of autoimmune diabetes and | |||||||||
STAT1 | 2 | 190.91 | 5.7 | 0.10 | −0.02 | 0.2 | STAT4 | + | |
FOXP3 | X | 49.25 | 2.9 | 0.23 | – | – | – | + |
Criteria for including genes based on association of T1D with trans-score for expression are shown in the header rows. The association of T1D with the cis-score for that gene is shown if a cis-score was constructed and was associated with T1D at p < 0.001. Any SNP association reported by the Type 1 Diabetes Knowledge Consortium is shown if the top SNP in the clump was within 200 kb of the transcription site of the target gene. This criterion excludes a clump of T1D-associated SNPs containing UBE4A, 263 kb downstream of IL10RA. The gene for the SNP association is that identified as the candidate or nearest gene in the original study.