Table 1.
Primary open-angle glaucoma (POAG) loci discovered by GWAS
| Population | Case/control (N) | New Loci | Reference | |
|---|---|---|---|---|
| Discovery | Replication | |||
| Iceland | 1263/34,877 | 2175/2064 (European) 299/1607 (Chinese) | CAV1/CAV2 | Thorliefsson et al. (2010) |
| Australian (ANZRAG) | 615/3956 | 892/4582 (Australian) | CDKN2BAS, TMCO1 | Burdon et al. [5] |
| European ancestry (NEIGHBOR) | 2170/2347 | 976/1140 (GLAUGEN) | SIX6, 8q22 (NTG) | Wiggs et al. [7] |
| Japanese | 1394/6599 | 1802/7212 | CDKN2BAS, SIX6 | Osman et al. [8] |
| Australian (ANZRAG) | 1155/1992 | 3548/9496 (Australian and US European) | ABCA1, AFAP1, GMDS | Gharahkhani et al. [9] |
| Chinese | 1007/1009 | 1899/4965 (Chinese and Singaporean Chinese) | ABCA1, PMM2 | Chen et al. [10] |
| African-American and Hispanic (WHI) | 1720/6067 (African-American WHI) | 489/2685 (Hispanic WHI) | DNAJC24-ELP4, TRIM9-TMX1, FAM86A-RBFOX1 | Hoffmann et al. [26] |
| Multiethnic | 3504/9746 | 9173/26,780 (multiethnic) | TGFBR3, FNDC3B | Li et al. Hum. [11] |
| European (Rotterdam) | 8105 (population-based) | 7471 population-based 1,225/4,117 | ARHGEF12 | Springelkamp et al. [12] |
| European ancestry (NEIGHBORHOOD) | 3853/33,480 | 3164/9242 (Australian, European, Singaporean Chinese) | TXNRD2, ATXN2, FOXC1, GAS7 | Cooke Bailey et al. [13] |
| Australian (ANZRAG) | 3071/6750 | 3853/33,480 US European ancestry (NEIGHBOR) | MYOF/CYP26A1, LINC02052/CRYGS, LMX1B, LMO7 | Gharahkhani et al. [16] |
| Japanese | 7378/36,385 | 1008/591 (East Asians) 5008/35,472 (Europeans) 2,341/2,037 (Africans) | FNDC3B, ANKRD55-MAP3K1, LMX1B, LHPP, HMGA2, MEIS2, LOXL1 | Shiga et al. [17] |
| Multiethnic (GERA and UKB) | 4986/58,426 7329/169,561 | 7329/169,561 (UKB) 4986/58,426 (GERA) | FMNL2, PDE7B, TMTC2, IKZF2, CADM2, DGKG, ANKH, EXOC2, LMX1B, THSD7A, ANGPT1, CTTNBP2/LSM8, BICC1, ELN, TCF12, PLCE1, LMO4/PKN2-AS1, COL11A1, PNPT1, MEIS1, ACOXL, DGKD, RARB, TSC22D2, LPP, BNIP1, PKHD1, TMEM181, FAM120B, SEMA3C/CACNA2D1, PRKAG2, FBXO32, MADD, NEAT1, LINC00540, VPS13C, CASC20, CHEK2 | Choquet et al. [15] |
| Multiethnic (UKB and ANZRAG) | 11,018/126,068 | NA | CADM2, THSD7A, ANGPT1, ANKH, EXOC2, BICC1, CTTNBP2, LOC101929614, LOC105378153, MECOM, CFTR, ETS1, LOC107986141, LOC107986142; | MacGregor et al. [18] |
| African (GIGA and BioMe) | 1113/1826 | 4588/4543 | EXOC4 | Bonnemaijer et al. [28] |
| African (ADAGES) | 946 advanced POAG/ 1709 | NA | EN04 | Taylor et al. [27] |
Adapted and updated from Wiggs and Pasquale [4]. Loci that are underlined still await validation in external cohorts.
ANZRAG Australian and New Zealand Registry of Advanced Glaucoma, NEIGHBOR National Eye Institute Glaucoma Human Genetics Collaboration, GLAUGEN glaucoma genes and environment, NTG normal tension glaucoma, NEIGHBORHOOD National Eye Institute Glaucoma Human Genetics Collaboration Heritable Overall Operational Database, WHI Women’s Health Initiative, GERA genetic epidemiology research in adult health and aging, UKB UK Biobank, GIGA genetics in glaucoma patients from African descent study, ADAGES African Descent and Glaucoma Evaluation Study