Table 2. Gene analysis results for the vascular tone pathway using data from the combined GLAUGEN and NEIGHBOR.
Protein | Label in Figure 2. | Gene (Ensembl ID) | Chr | No. of simplea features | No. of complexa features |
POAG |
POAG with early paracentral visual field loss |
POAG with peripheral visual field loss only |
---|---|---|---|---|---|---|---|---|
P-valueb | P-valueb | P-valueb | ||||||
5′ AMP-activated protein kinase | AMPK | PRKAA1c | 5 | 0 | 2 | <0.001 | 0.05 | 0.05 |
Inositol 1,4,5-trisphosphate receptor, type 3 | IP3R | ITPR3c | 6 | 14 | 9 | <0.001 | <0.001 | >0.99 |
Hemochromatosis protein | — | HFE | 6 | 0 | 2 | <0.001 | <0.001 | 0.07 |
Caveolin-1/caveolin 2 | CAV1 | CAV1c | 7 | 2 | 6 | <0.001 | <0.001 | 0.004 |
G-protein subunit β-2 | G beta | GNB2c | 7 | 0 | 2 | <0.001 | >0.99 | >0.99 |
Endothelin receptor type B | ETB | EDNRBc | 13 | 0 | 1 | <0.001 | <0.001 | >0.99 |
Dynamin II | Dyn2 | DNM2c | 19 | 2 | 7 | <0.001 | 0.06 | >0.99 |
Myosin regulatory light polypeptide 9 | MLC | MYL9 | 20 | 0 | 1 | <0.001 | >0.99 | >0.99 |
Abbreviations: Chr, chromosome; GLAUGEN, the Glaucoma Genes and Environment study; LD, linkage disequilibrium; NEIGHBOR, National Eye Institute Glaucoma Human Genetics Collaboration; POAG, primary open-angle glaucoma; SNP, single-nucleotide polymorphism.
Simple features refer to single SNPs not in any LD block; complex features refer to LD blocks with two or more SNPs.
P-values are permuted P-values.
Genes for proteins that interact with endothelial nitric oxide synthase; see Figure 2.