Table 2.
POAG-associated genes.
| Gene | Association | References | Remarks |
|---|---|---|---|
| AGTR2 | NTG | Hashizume et al., 2005 | CGAS, interaction with gender |
| APOE | POAG | Copin et al., 2002 | CGAS |
| ASB10 | POAG | Pasutto et al., 2012 | Family-based linkage study |
| ATOH7 | POAG | Ramdas et al., 2011; Chen et al., 2012 | CGAS, interactive effect with RFTN1 |
| C7 | POAG | Scheetz et al., 2013 | GWAS |
| CAV1/CAV2 | POAG | Thorleifsson et al., 2010 | GWAS, also associated with IOP (Ozel et al., 2014) |
| POAG | Wiggs et al., 2011 | CGAS, interaction with gender, also associated with IOP (Ozel et al., 2014) | |
| CDKN1A | POAG | Tsai et al., 2004 | CGAS |
| CDKN2B-AS1 | POAG | Ramdas et al., 2011 | CGAS |
| POAG | Burdon et al., 2011 | GWAS, also associated with IOP (Ozel et al., 2014) | |
| POAG | Nakano et al., 2012 | GWAS, also associated with IOP (Ozel et al., 2014) | |
| POAG, NTG, XFG | Wiggs et al., 2012 | GWAS, also associated with IOP (Ozel et al., 2014) | |
| CYP1B1 | JOAG | Vincent et al., 2002 | CGAS |
| EDNRA | NTG | Ishikawa et al., 2005 | CGAS |
| ELOVL5 | NTG | Meguro et al., 2010 | GWAS |
| GAS7 | POAG | Van Koolwijk et al., 2012 | CGAS, SNP identified in IOP GWAS |
| GLC1B | POAG | Stoilova et al., 1996 | Family-based linkage study |
| GSTM1 | POAG | Juronen et al., 2000 | CGAS |
| HK2 | POAG and NTG | Shi et al., 2013 | CGAS |
| IGF2 | POAG | Tsai et al., 2003 | CGAS |
| IL1B | POAG | Lin et al., 2003b | CGAS |
| LOXL1 | XFG | Thorleifsson et al., 2007 | GWAS, not associated with POAG |
| MMP1 | POAG | Majsterek et al., 2011b | CGAS |
| MTHFR | POAG | Junemann et al., 2005 | CGAS |
| MYOC | JOAG | Sheffield et al., 1993; Stone et al., 1997 | Family-based linkage study |
| NCK2 | NTG | Shi et al., 2013 | CGAS |
| NOS3 | POAG | Tunny et al., 1998 | CGAS |
| HTG | Kang et al., 2010 | CGAS, interaction with gender and hormone use | |
| POAG | Kang et al., 2011 | CGAS, interaction with hypertension and smoking | |
| NPPA | POAG | Tunny et al., 1996 | CGAS |
| OCLM | POAG | Fujiwara et al., 2003 | CGAS |
| OPA1 | NTG | Aung et al., 2002 | CGAS |
| OPTN | NTG | Sarfarazi et al., 1998; Rezaie et al., 2002 | Family-based linkage study |
| Six1/Six6 | POAG | Ramdas et al., 2011 | CGAS |
| POAG | Wiggs et al., 2012 | GWAS, also associated with IOP (Ozel et al., 2014) | |
| SRBD1 | NTG | Meguro et al., 2010 | GWAS |
| TAP1 | POAG | Lin et al., 2004 | CGAS |
| TMCO1 | POAG | Burdon et al., 2011 | GWAS, also associated with IOP (Van Koolwijk et al., 2012; Ozel et al., 2014) |
| TNF | POAG | Lin et al., 2003a | CGAS |
| TP53 | POAG | Lin et al., 2002 | CGAS |
| WDR36 | POAG | Monemi et al., 2005 | CGAS |
AGTR2, Angiotensin II receptor type 2; APOE, Apolipoprotein E; ASB10, ankyrin repeat and SOCS box-containing 1; ATOH7, atonal homolog 7; C7, complement component 7; CAV1, caveolin 1; CAV2, caveolin 2; CDKN1A, cyclin-dependent kinase inhibitor 1A; CDKN2B-AS1, CDKN2B antisense RNA 1; CGAS, candidate gene association study; CYP1B1, cytochrome P450 subfamily I polypeptide 1; EDNRA, endothelin receptor type A; ELOVL1, elongation of very-long-chain-fatty acids 1; GAS7, growth arrest-specific protein 7; GLC1B, glaucoma 1, open angle, B; GSTM1, glutathione S-transferase mu-1; GWAS, genome-wide association study; HK2, hexokinase 2; HTG, high-tension glaucoma; IGF2, insulin-like growth factor II; IL1B, interleukin 1-beta; IOP, intra-ocular pressure; JOAG, juvenile open angle glaucoma; LOXL1, lysyl oxidase-like 1; MMP1, matrix metalloproteinase 1; MTHFR, 5,10-methylenetetrahydrofolate reductase; MYOC, myocilin; NCK2, NCK adaptor protein 2; NOS3, nitric oxide synthase 3; NPPA, natriuretic peptide precursor; NTG, normal-tension glaucoma; OCLM, oculomedin; OPA1, optic atrophy 1; OPTN, optineurin; POAG, primary open angle glaucoma; RFTN1, raftlin lipid raft linker 1; Six1/Six6, six homeobox1/6; SRBD1, S1 RNA-Binding Domain-Containing Protein 1; TAP1, transporter ATP-binding cassette major histocompatibility complex 1; TMCO1, transmembrane and coiled-coil domains 1; TNF, tumor necrosis factor; TP53, tumor protein p53; WDR36, WD repeat domain 36; XFG, exfoliation glaucoma.