Abstract
Shorter axial length observed in patients with primary angle closure glaucoma (PACG) might be due to altered matrix metalloproteinase-9 (MMP9) activity resulting in ECM remodeling during eye growth and development. This study aimed to evaluate common variants in MMP9 for association with PACG. Six tag SNPs of MMP9 were genotyped in a Chinese sample of 1,030 cases, including 572 PACG and 458 primary angle closure (PAC), and 499 controls. None of 6 SNPs were significantly associated with overall PAC/PACG (P > 0.07) or with PAC/PACG subgroups (Pc > 0.18). Meta-analysis of two non-Chinese studies revealed significant association between rs17576 and PACG (ORs = 0.56, P < 0.0001); however, meta-analysis of our dataset with 4 Chinese datasets did not replicate this association (ORs = 1.23, P = 0.29). Prior significant association for rs3918249 in one Caucasian study (OR = 0.63, P = 0.006) was not replicated in meta-analysis of 3 Chinese studies including this study (ORs = 0.91, P = 0.13). Significant heterogeneity between non-Chinese and Chinese datasets precluded overall meta-analysis for rs17576 and rs3918249 (Q = 0.001 and 0.04 respectively). rs17577 was nominally associated with PACG in one Caucasian study (OR = 1.71, P = 0.02), but not in 3 Chinese studies including our study (ORs = 1.20, P = 0.07). Overall meta-analysis revealed nominal association for rs17577 and PAC/PACG (ORs = 1.26, Pc = 0.05). Meta-analysis did not show significant association between the other SNPs and PAC/PACG (P > 0.47). The largest association study to date did not find significant association between MMP9 and PAC/PACG in Chinese; meta-analysis with other Chinese datasets did not produce significant association. In most instances combination with non-Chinese datasets was not possible except for one variant showing nominally significant association. More work is needed to define the role of MMP9 variants in PACG.
Highlights
Glaucoma is the leading cause of irreversible blindness worldwide, and is characterized by retinal ganglion cell death which results in vision loss [1]
None of the 6 matrix metalloproteinase-9 (MMP9) tag SNPs were significantly associated with overall primary angle closure (PAC)/primary angle closure glaucoma (PACG) or with the subgroups
It is hypothesized that shorter axial length observed in patients with PACG might be due to a change in the MMP9 activity resulting in ECM remodeling during eye growth and development [10]
Summary
Glaucoma is the leading cause of irreversible blindness worldwide, and is characterized by retinal ganglion cell death which results in vision loss [1]. Primary open-angle glaucoma (POAG) and primary angle closure glaucoma (PACG) are two major forms of glaucoma. PACG is characterized by the apposition between the peripheral iris and trabecular meshwork, which causes elevated intraocular pressure (IOP). It is estimated that PACG blinds more people than POAG worldwide [2]. PACG is more prevalent in Asian populations, affecting approximately 0.75% of adult Asians [3]. The prevalence of PACG is estimated to be 1.1% in the Chinese population [3]. The prevalence of PACG in those 40 years or more is 0.4% in European derived populations [4]. It is estimated that 581,000 people in the U.S are affected with PACG today, and this is projected to increase by 18% within the decade [4]
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