TABLE 4.
Effect of rs9271058 on HLA-DRB1 gene expression in different regions of normal human brain in GTEx.
| Variant ID | Tissue | Samples | Genotype |
P-value | NES | ||
| AA | AT | TT | |||||
| chr6_32607629_A_T_b38 | Brain – Cerebellum | 209 | 11 | 95 | 103 | 4.2×10–23 | –0.72 |
| Brain-Caudate (basal ganglia) | 194 | 11 | 80 | 103 | 1.6×10–16 | –0.45 | |
| Brain – Cortex | 205 | 12 | 86 | 107 | 2.5×10–15 | –0.53 | |
| Brain – Putamen (basal ganglia) | 170 | 11 | 79 | 80 | 1.3×10–14 | –0.54 | |
| Brain – Nucleus accumbens (basal ganglia) | 202 | 10 | 83 | 109 | 4.6×10–13 | –0.46 | |
| Brain – Frontal Cortex (BA9) | 175 | 7 | 76 | 92 | 1.3×10–12 | –0.52 | |
| Brain – Cerebellar Hemisphere | 175 | 7 | 76 | 92 | 7.5×10–12 | –0.57 | |
| Brain – Anterior cingulate cortex (BA24) | 147 | 8 | 67 | 72 | 1.8×10–11 | –0.54 | |
| Brain – Hypothalamus | 170 | 8 | 69 | 93 | 1.2×10–8 | –0.34 | |
| Brain – Amygdala | 129 | 5 | 50 | 74 | 8.9×10–8 | –0.33 | |
| Brain – Hippocampus | 165 | 8 | 66 | 91 | 1×10–6 | –0.27 | |
| Brain – Spinal cord (cervical c-1) | 126 | 7 | 51 | 68 | 1.4×10–5 | –0.30 | |
Samples: The number of RNA-seq samples with genotype, P-value: from a t-test that compares observed NES from single-tissue eQTL analysis to a null NES of 0, NES: Normalized Effect Size, the slope of the linear regression of normalized expression data versus the three genotype categories using single-tissue eQTL analysis representing eQTL effect size.