Dry AMD / Klein5 / 2005 / 96 / 1q31 / CFH / 4.1x10-8 / 4.6
(2-11)
Wet AMD / DeWan14 / 2006 / 96 / 10q26 / HTRA1 / 8x10-12 / 1.6(0.75-3.68)
POAG / Thorleifsson28 / 2010 / 1263 / 7q31 / CAV1 & CAV2 / 2x10-11 / 1.27 (1.18-1.36)
Burdon32 / 2011 / 590 / 9q21.3 / CDKN2B-AS1 / 1 x 10-14 / 1.39 (1.28-1.51)
Nakano46 / 2012 / 833 / 9p21.3 / CDKN2B-AS1 / 9 x 10-11 / 1.78 (1.5-2.12)
Osman31 / 2012 / 1394 / 9p21.3 / CDK2N / 5x10-11 / 1.33 (1.22-1.43)
14q23.1 / SIX1, SIX6 / 9x10-8 / 1.27 (1.18-1.37)
2q21.2 / NCKAP5 / 4x10-7 / 1.18 (1.1-1.25)
PXF / Thorleifsson53 / 2007 / 195 / 15q24.1 / LOXL1 / 3x10-21 / 20.1 (10.8-37.41)
NTG / Meguro44 / 2010 / 305 / 2p21 / SRBD1 / 2.5x10-9 / 2.8
(1.96-3.99)
6p21.1-p12.1 / ELOVL5 / 4.14x10-6 / 1.69
(1.36-2.11)
Nakano46 / 2012 / 833 / 9p21.3 / CDKN2B-AS1 / 8.3x10-9 / 2.08 (1.61-2.67)
Wiggs35 / 2012 / 3146 / 9p21.3 / CDKN2B-AS / 1x10-12 / 0.58 (0.5-0.67)
14q23.1 / SIX1,SIX6 / 4x10-11 / 1.32(1.21-1.43)
8q22.3 / LRP12, ZFPM2 / 9x10-10 / 0.62 (0.53-0.72)
Takamoto47 / 2012 / 286 / 9p21.3 / CDKN2B-AS1 / 5x10-11 / 2.13(1.69-2.68)
PACG / Vithana61 / 2012 / 1854 / 11p15.1 / PLEKHA7 / 5x10-12 / 1.22
1p21.1 / COL11A1 / 9x10-10 / 1.2
8q11.23 / PCMTD1-ST18 / 3x10-9 / 1.5
22q11.21 / TXNRD2 / 2x10-7 / 1.22
Myopia / Solouki116 / 2010 / 5328 / 15q14 / GOLGA8B / 2x10-14 / 0.23 (dioptre decrease)
Hysi117 / 2010 / 4270 / 15q25 / RASGRF1 / 2x10-9 / 0.15 (dioptre decrease)
Keifer93 / 2013 / 45771 / * / LAMA2, ANTXR2, RDH5, KCNQ5, PRSS56, BMP4, BMP3, ZBTB38, DLX1, ZIC2, ZMAT4, KCNMA1, RBFOX1, LRRC4C, DLG2, TJP2, TOX/CA8, GJD2, SRFP1, SHISA6, PABPCP2, RASGRF1, RGR, DLG2, ZBTB38, PDE11A, DLX1, ADAMTSL1 / * / *
Verhoeven94
(CREAM) / 2013 / 37,382 (Caucasian)
8376 (Asian) / * / CD55, PRSS56, CHRNG, CACNA1D, BMP3, LAMA2, CHD7, TOX, ZMAT4, RORB, CYP26A1, BICC1, GRI!4, RDH5, PCCA, ZIC2, GJD2, RASGRF1, MYO1D, KCNJ2, CNDP2 / * / *
High Myopia / Nakanishi 82 / 2009 / 297 / 11q24.1 / BLID / 2.22x10-7 / 1.37
Meng92 / 2012 / 192 / 8p23 / MIR4660/PP1R3B/MIR124 / 6.32x10-7 / 0.52
10q21 / Intergenic / 2.17 x10-5 / 1.61
Li118 / 2012 / 287 / 5p15 / CTNND2 / 1.51x10-5 / 2.25
Fuchs Endothelial Dystrophy / Baratz64 / 2010 / 130 / 18q21.2 / TCF4 / 1x10-18 / 5.47 (3.75-7.99)
3p14.2 / PTPRG / 10-6 / 2.3 (1.64-3.22)
Keratoconus / Li68 / 2012 / 222 / 2q21.3 / RAB3GAP1 / 1.6x10-7 / 0.62
Corneal Curvature / Han108 / 2011 / 2867 / 1p36 / FRAP1 / 4x10-13 / 0.178 (0.11-0.25)
4q12 / PDGFRA / 10-19 / 0.129 (0.07-0.19)
Fan112 / 2011 / 2249 / 4q12 / PDGFRA / 8x10-9 / 1.26 (1.18-1.34)
Mishra30 / 2012 / 1788 / 11q22 / TRIM29 / 4x10-7 / 0.0365 (0.022-0.05)
CCT / Lu102 / 2010 / 3473 / 16q24.2 / ZNF469 / 9x10-11 / 0.16 (0.1-0.22) decrease thickness
13q14.1 / FOX01 / 5x10-10 / -0.24 (0.16-0.32) decrease thickness
Vitart104 / 2010 / 1445 / 16q24.2 / ZNF469 / 6x10-22 / 0.16 (0.13-0.19) decrease thickness
13q12.11 / AVGR8 / 4x10-9 / 0.14 (0.1-0.19)
15q25.3 / AKAP13 / 1.4x10-8 / 0.17 (0.11-0.23)
9q34.3 / COL5A1 / 5x10-8 / 0.13 (0.09-0.18)
Hoehn107 / 2012 / 3931 / 16q24.2 / ZNF469 / 10-12 / 0.16 (0.12-0.2)
9q34.3 / COL5A1 / 3x10-10 / 0.15 (0.11-0.19)
Optic Disc parameters / Ramdas34 / 2010 / 7360 / 10q21.3-q22.1 / ATOH7 / 2.67x10-35
(Optic disc area)
3x10-8 (VCDR) / 0.01 (0.010-0.018)
MacGregor96 / 2010 / 1368 / 10q21.3 / ATOH7 / 2x10-7 / 0.21(0.12-0.3)
Khor97 / 2011 / 4445 / 22q13.1 / CARD10 / 8x10-17 / 0.059
Diabetic Retinopathy / Huang74 / 2011 / 174 / 10q11.22 / ARHGAP22 / 2x10-9 / 1.58 (1-2.52)
10p21.31 / PLXDC2 / 3x10-7 / 1.67 (1.06-2.65)
1p32.1 / MYSM1 / 3x10-7 / 1.5 (1.03-2.2)
13q32.1 / HS6ST3 / 5x10-11 / 2.33 (1.13-4.77)
Grassi73 / 2011 / 973 / 1q44 / AKT3, ZNF238 / 1x10-7 / 0.75
Rhegmatogenous Retinal Detachment / Kirin79 / 2013 / 867 / 1q21.3 / CERS2 / 2.11X10-8 / 0.81 (0.75-0.88)
TABLE: Summary of GWAS findings in Ophthalmological disease and disease associated traits
OR: Odds Ratio (95% Confidence Intervals)
* Numerous genes, therefore location, P value and OR not defined in this table
AMD: Age Related Macular Degeneration POAG: Primary Open Angle Glaucoma PXF: Pseudoexfoliation
NTG: Normal Tension Glaucoma PACG: Primary Angle Closure Glaucoma CCT: Central Corneal Thickness VCDR: Vertical Cup Disc Ratio
CREAM: Consortium for Refractive Error and Myopia