ABSTRACTBackgroundTo investigate single‐nucleotide polymorphisms (SNPs) reported in the largest up‐to‐date systematic review and meta‐analysis on primary angle‐closure disease (PACD), on their associations with primary angle‐closure glaucoma (PACG) and disease progression.MethodsThis study involved a case–control design for PACG risk and a case‐only design for PACG progression risk, including 628 PACG patients and 564 controls for disease association and 386 PACG patients with up to 10‐year follow‐up for PACG progression analysis. Associations of 17 SNPs in 15 genes with PACG were analysed using logistic regression. Sex‐stratified association analysis was performed, followed by the Breslow‐Day test. Genetic risk for PACG progression was evaluated using logistic regression. Bonferroni correction of p values was adopted for multiple comparisons.ResultsLOXL1 rs3825942 (G153D; p = 0.0026; OR = 0.65) was significantly associated with PACG, while ABCC5 rs1401999 showed a nominal association (p = 0.023; OR = 1.32). ABCA1 rs2422493 was significantly associated with PACG in females (p = 0.0016; OR = 0.70) but not in males (p = 0.95; OR = 0.99); and the Breslow‐Day Test (p = 0.046) suggested a sex‐specific association in females. VAV3 rs6689476 showed nominal associations with PACG progression at 3‐year (p = 0.045; OR = 2.86), 5‐year (p = 0.037; OR = 2.84) and 10‐year follow‐ups (p = 0.03; OR = 2.74), but the p values could not withstand Bonferroni correction.ConclusionThis study demonstrated a role of LOXL1 in PACG and a sex‐specific effect of ABCA1 in the Hong Kong Chinese population while suggesting a potential role of VAV3 in PACG progression, which has yet to be further confirmed.