Table 1.
Target genes of distal DHSs harboring GWAS variants.
| Disease or trait | r | Target gene | Distance |
|---|---|---|---|
| Amyotrophic lateral sclerosis | 1 | SYNGAP1* - Axon formation; component of NMDA complex | 411 kb |
| Crohn’s disease | 1 | TRIB1* - NFkB regulation | 95 kb |
| Time to first primary tooth | 0.99 | PRDM1* - Craniofacial development | 452 kb |
| C-reactive protein | 0.99 | NLRP3 - Response to bacterial pathogens | 20 kb |
| Multiple sclerosis | 0.98 | AHI1* - White matter abnormalities | 149 kb |
| QRS duration | 0.96 | SCN10A* - Sodium channel involved in cardiac conduction | 181 kb |
| Breast cancer | 0.96 | TACC2* - Tumor suppressor | 411 kb |
| Schizophrenia/brain imaging | 0.95 | KIF1A* - Neuron-specific kinesin involved in axonal transport | 428 kb |
| Brain structure | 0.94 | CXCR6* - Chemokine receptor involved in glial migration | 357 kb |
| Rheumatoid arthritis | 0.94 | CTSB* - Cysteine proteinase linked to articular erosion | 359 kb |
| Ovarian cancer | 0.93 | HSPG2* - Ovarian tumor supressor | 268 kb |
| Multiple sclerosis | 0.93 | ZP1* - Known autoantigen | 153 kb |
| ADHD | 0.93 | PDLIM5* - Neuronal calcium signaling | 328 kb |
| Breast cancer | 0.88 | MAP3K1* - Response to growth factors | 158 kb |
| Amyotrophic lateral sclerosis | 0.88 | CNTN4 - Neuronal cell adhesion | 306 kb |
| Schizophrenia | 0.81 | FXR1* - Cognitive function | 120 kb |
| Type 1 diabetes | 0.75 | ACAD10* - Mitochondrial oxidation of fatty acids | 343 kb |
| Lupus | 0.74 | STAT4 - Mediates IL12 immune response and Th1 differentiation | 113 kb |
Examples of distal DHSs-to-promoter connections that highlight candidate genes potentially underlying the association.
*
indicates that highest correlated gene is not the nearest gene.
r, Pearson’s correlation coefficient.