Table 2.
cASE with T2D GWAS
| COLOC | T2D GWAS | CASE | ||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Chr | SNP | Gene | PP.H4. abf | SNP. PP.H4 | EAF | EA | NEA | OR | p | Reporter variant | Ref | Alt | p | Z score |
| 1 | rs1127215 | PTGFRN | 0.99 | 0.98 | 0.42 | T | C | 0.95 | 2.3E-13 | rs1127656 | C | T | 8.5E-9 | 14.6 |
| 4 | rs10937721 | WFS1 | 0.95 | 0.26 | 0.59 | C | G | 1.09 | 1.6E-40 | rs1046320 | G | A | 3.2E-16 | −20.9 |
| 8 | rs3802177 | SLC30A8 | 1.00 | 0.61 | 0.31 | A | G | 0.90 | 6.3E-55 | rs11558471 | A | G | 2.9E-14 | 19.5 |
| 10 | rs2280141 | PLEKHA1 | 0.96 | 0.06 | 0.48 | G | T | 0.95 | 2.0E-13 | rs1045216 | A | G | 1.7E-11 | 17.2 |
| 11 | rs35251247 | HSD17B12 | 0.95 | 0.21 | 0.29 | A | G | 1.05 | 8.5E-13 | rs11555762 | C | T | 5.1E-93 | 52.9 |
| 11 | rs35251247 | RP11-613D13.5 | 0.93 | 0.07 | 0.29 | A | G | 1.05 | 8.5E-13 | rs35251247 | G | A | 6.8E-12 | −17.5 |
| 11 | rs5215 | KCNJ11 | 0.83 | 0.36 | 0.63 | T | C | 0.93 | 2.0E-26 | rs5215 | C | T | 8.6E-6 | −11.1 |
| 11 | rs529623 | FXYD2 | 0.95 | 1.00 | 0.52 | C | T | 0.97 | 5.8E-6 | rs529623 | T | C | 3.4E-231 | 84.1 |
| 11 | rs529623 | RP11-728F11.3 | 0.91 | 0.81 | 0.52 | C | T | 0.97 | 5.8E-6 | rs869789 | G | A | 7.2E-16 | 20.7 |
| 12 | rs10879261 | TSPAN8 | 0.85 | 0.08 | 0.41 | G | T | 1.05 | 3.7E-13 | rs3763978 | C | G | 7.2E-11 | −16.6 |
| 16 | rs6600191 | ITFG3 | 0.86 | 0.24 | 0.18 | C | T | 0.94 | 7.0E-13 | rs7193384 | C | G | 1.1E-7 | 13.4 |
| 18 | rs1788762 | C18orf8 | 0.96 | 0.06 | 0.64 | C | G | 0.97 | 2.3E-6 | rs1788820 | A | G | 3.2E-25 | −26.7 |
| 18 | rs1788762 | NPC1 | 0.96 | 0.06 | 0.64 | C | G | 0.97 | 2.3E-6 | rs1788820 | A | G | 3.2E-25 | −26.7 |
| 19 | rs3111316 | CALR | 0.99 | 0.47 | 0.59 | A | G | 1.05 | 1.6E-12 | rs1049481 | G | T | 1.6E-76 | −47.9 |
The R COLOC package reports the approximate Bayesian factor posterior probability (PP.H4.abf) that there is one common causal variant and the posterior probability (SNP.PP.H4) that the SNP is the associated causal variant. The GWAS establishes the link between the SNP and T2D; the effect alleles (EA) with a frequency (EAF) are shown with the associated effect OR and the p value. The GWAS data are as reported by the DIAGRAM Consortium (Mahajan et al., 2018). The cASE analysis provides the allelic imbalance for the allele represented by the reporter SNP with a reference allele (Ref) and an alternative allele (Alt), a p value (FDR threshold of 0.006), and a Z score. An increased Z score refers to increased expression of the reference allele.