Primary angle closure glaucoma (PACG) is a major cause of blindness worldwide. We conducted a genome-wide association study (GWAS) followed by replication in a combined total of 10,503 PACG cases and 29,567 controls drawn from 24 countries across Asia, Australia, Europe, North America, and South America. We observed significant evidence of disease association at five new genetic loci upon meta-analysis of all patient collections. These loci are at EPDR1 rs3816415 (odds ratio (OR) = 1.24, P = 5.94 × 10(-15)), CHAT rs1258267 (OR = 1.22, P = 2.85 × 10(-16)), GLIS3 rs736893 (OR = 1.18, P = 1.43 × 10(-14)), FERMT2 rs7494379 (OR = 1.14, P = 3.43 × 10(-11)), and DPM2-FAM102A rs3739821 (OR = 1.15, P = 8.32 × 10(-12)). We also confirmed significant association at three previously described loci (P < 5 × 10(-8) for each sentinel SNP at PLEKHA7, COL11A1, and PCMTD1-ST18), providing new insights into the biology of PACG.

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PurposeWe evaluated the impact of myopia on corneal biomechanical properties in primary open-angle glaucoma (POAG) and nonglaucoma patients, and the effect of modification of glaucoma on myopic eyes.MethodsThis cross-sectional study included 66 POAG eyes (33 myopia, 33 nonmyopia) and 66 normal eyes (33 myopia, 33 nonmyopia). Seven corneal biomechanical parameters were measured by ultra-high-speed Scheimpflug imaging, including corneal deformation amplitude (CDA), inward/outward corneal applanation length (ICA, OCA), inward/outward corneal velocity (ICV, OCV), radius, and peak distance (PD).ResultsMean age (SD) of the 65 male (49%) and 67 female (51%) patients was 59 (9.82) years. Myopia was associated with significantly higher CDA (adjusted effect = 0.104, P = 0.001) and lower OCV (adjusted effect = −0.105, P < 0.001) in the POAG group. Within the nonglaucoma group, myopic eyes had a significantly lower OCV (adjusted effect = −0.086, P < 0.001) and higher CDA (adjusted effect = 0.079, P = 0.001). All parameters except PD suggested that glaucoma modified the effect of myopia on corneal biomechanics. Percentage differences in the adjusted myopic effect between POAG and nonglaucoma patients was 31.65, 27.27, 31.65, 50.00, 22.09, and 60.49 for CDA, ICA, OCA, ICV, OCV, and radius, respectively.ConclusionsMyopia had a significant impact on corneal biomechanical properties in the POAG and nonglaucoma groups. The differences in corneal biomechanical parameters suggest that myopia is correlated with significantly lower ocular rigidity. POAG may enhance the effects of myopia on most of these parameters.