Table 5. Analysis of linkage disequilibrium between SNPs in GWAS loci of select phenotypes and TCF21 peak regions for chosen phenotypes.
| Traits | Average LD Values | GWAS SNPs | GWAS SNPs having R2 with TCF21 SNPs | TCF21 SNPs before LD pruning | TCF21 SNPs with LD pruning | P-value with 10000 permutations |
|---|---|---|---|---|---|---|
| Inflammatory bowel disease | 0.474119347 | 117 | 79 | 535 | 169 | P<10e-4 |
| Height | 0.410534747 | 321 | 218 | 1143 | 432 | P<10e-4 |
| Schizophrenia | 0.45038231 | 120 | 83 | 450 | 167 | 0.0004 |
| Ulcerative colitis | 0.446449065 | 82 | 55 | 401 | 115 | 0.0041 |
| * CAD extended nolipid | 0.406510724 | 223 | 150 | 718 | 296 | 0.0052 |
| * CAD extended | 0.402737992 | 229 | 152 | 735 | 305 | 0.0086 |
| Insulin resistance | 0.461195794 | 51 | 31 | 132 | 58 | 0.0104 |
| CAD nolipid | 0.41715869 | 122 | 76 | 316 | 150 | 0.0197 |
| CAD | 0.416045058 | 126 | 78 | 328 | 155 | 0.0209 |
| Blood pressure | 0.419870421 | 111 | 65 | 322 | 123 | 0.0263 |
| Platelets | 0.426035533 | 61 | 49 | 251 | 95 | 0.0284 |
| Triglycerides | 0.417955674 | 52 | 37 | 202 | 78 | 0.0695 |
| Aneurysm | 0.436847165 | 25 | 17 | 103 | 35 | 0.0896 |
| Macular degen | 0.423410192 | 45 | 25 | 80 | 45 | 0.0909 |
| Kawasaki disease | 0.449048952 | 18 | 11 | 66 | 18 | 0.112 |
| LDL cholesterol | 0.401895683 | 78 | 47 | 218 | 99 | 0.1148 |
| Cholesterol total | 0.388545716 | 78 | 55 | 279 | 116 | 0.1798 |
| B function glucose | 0.390955994 | 48 | 33 | 150 | 61 | 0.2263 |
| Celiac disease | 0.374576605 | 56 | 30 | 172 | 54 | 0.3688 |
| Breast cancer | 0.368659838 | 131 | 81 | 373 | 141 | 0.3806 |
| Parkinson disease | 0.368841594 | 67 | 42 | 294 | 81 | 0.4017 |
| Migraine | 0.361138473 | 133 | 86 | 357 | 165 | 0.4966 |
| Systemic lupus erythematosus | 0.335187216 | 72 | 49 | 260 | 92 | 0.7776 |
*GWAS catalog genes were supplemented with additional CAD genes identified from CARDIoGRAM+C4D, which are not currently included in the GWAS catalog. Traits with bold text are those significant at P<0.05 in both the GWAS gene enrichment analysis shown in Table 4 and the current analysis.