Table 3.
Trans-eQTLs cluster (number of genes)a | GO enrichment for the trans-eQTLs cluster genes (P-value)b | P-value of enrichment of the trans-eQTL cluster genes in human GWAS datac | Rat gene underlying trans-eQTL cluster (within 2 kb window) | Significantly correlated blood pressure phenotype in the rat (FDR <5%) | Human orthologue gene symbol | Human orthologue gene name | GWAS SNPd | Gene Section | GWAS P-valuee | PMID for the GWAS |
---|---|---|---|---|---|---|---|---|---|---|
kid4_90 (n = 12) | — | 0.07 | Fam190a | — | FAM190A | Family with sequence similarity 190, member A | rs17018584 | 3′UTR | 2.45 × 10−11 | 17554300 |
skm7_90 (n = 10) | — | 0.04 | D3ZCG8_RAT | — | SAMD12 | Sterile alpha motif domain containing 12 | rs17829808 | 20kb from TSS | 4.60 × 10−7 | 17554300;17903302 |
skm4_182 (n = 25) | — | 0.02 | Bcat1 | MBP, SBP | BCAT1 | Branched chain amino-acid transaminase 1, cytosolic | rs7961152 | Intron | 7.39 × 10−6 | 17554300 |
aorta19_12 (n = 10) | GO:0001890∼placenta development (P = 7.5 × 10−4) | 0.19 | Large | — | LARGE | Lke-glycosyltransferase | rs2277840 | Intron | 1.42 × 10−5 | 17554300;21909115 |
skm7_87 (n = 14) | — | 0.10 | Trps1 | MBD, DBP | TRPS1 | Trichorhinophalangeal syndrome I | rs16887447 | Intron | 5.79 × 10−5 | 17554300 |
fat1_154 (n = 10) | — | 0.20 | Odz4 | — | ODZ4 | odz, odd Oz/ten-m homolog 4 (Drosophila) | rs648443 | Intron | 3.50 × 10−4 | 17554300;21909115 |
lv6_1 (n = 10) | — | 0.20 | Vit | — | VIT | Vitrin | rs1468811 | Intron | 3.64 × 10−4 | 17554300 |
aorta2_172 (n = 12) | — | 0.27 | Pdgfc | SPEC | PDGFC | Platelet-derived growth factor C | rs17230544 | ncRNA | 3.83 × 10−4 | 17463246 |
aorta2_234 (n = 153) | GO:0030029∼actin filament-based process (P = 7.7 × 10−6) | 0.38 | Ppp3ca | — | PPP3CA | Protein phosphatase 3, catalytic subunit, alpha isozyme | rs2850341 | Intron | 3.96 × 10−4 | 17554300 |
skm17_92 (n = 35) | — | 0.08 | Myo3a | — | MYO3A | Myosin IIIA | rs982082 | Intron | 4.91 × 10−4 | 21909115 |
liver1_149 (n = 30) | GO:0005739∼mitochondrion (P = 3.8 × 10−5) | 0.24 | Dlg2 | — | DLG2 | Discs, large homolog 2 (Drosophila) | rs17146788 | Intron | 5.36 × 10−4 | 17463246;17554300;21909115 |
lv8_28 (n = 31) | GO:0009057∼macromolecule catabolic process (P = 2.6 × 10−3) | 0.93 | Opcml | — | OPCML | Opioid binding protein/cell adhesion molecule-like | rs11223077 | Intron | 5.50 × 10−4 | 17554300;21909115 |
skm8_28 (n = 19) | — | 0.20 | Opcml | — | OPCML | Opioid-binding protein/cell adhesion molecule-like | rs11223077 | Intron | 5.50 × 10−4 | 17554300;21909115 |
aorta6_25 (n = 15) | — | 0.03 | Dpysl5 | — | DPYSL5 | Dihydropyrimidinase-like 5 | rs827884 | Intron | 6.67 × 10−4 | 17554300 |
lv3_161 (n = 10) | — | 0.57 | Cyp24a1 | — | CYP24A1 | Cytochrome P450, family 24, subfamily A, polypeptide 1 | rs6022994 | Intron | 6.91 × 10−4 | 17554300 |
aorta4_10 (n = 12) | GO:0006955∼immune response (P = 4.4 × 10−5) | 0.64 | Magi2 | — | MAGI2 | Membrane-associated guanylate kinase, WW and PDZ domain containing 2 | rs17150624 | Intron | 7.12 × 10−4 | 17554300;21909115 |
aClusters of trans-eQTLs were defined as a group of 10 or more genes mapping to the same locus (reported in Figure 3 and Supplementary material online, Table S3). Clusters detected in multiple tissues are highlighted with bold fonts.
bSignificance for gene ontology (GO) enrichment reported with FDR<5%.
cEnrichment of rat trans-eQTLs cluster genes in the rat–human orthologous genes that were genetically associated with hypertension by GWAS (P < 0.001).
dSNP from the GWAS which were reported to associated with hypertension.
eSignificance of the genetic association with hypertension reported in the GWAS.