Abstract
To investigate the association of known candidate genes with the visual field (VF) progression of primary open angle glaucoma (POAG) in a Han Chinese population. We included 440 POAG patients in this study. Fourteen previously reported single nucleotide polymorphisms (SNPs) at five different gene regions (TGFBR3-CDC7, TMCO1, CDKN2B-AS1, ATOH7, and SIX1/SIX6) were genotyped. Age at diagnosis, gender, intraocular pressure (IOP), mean defect (MD) of VF, vertical cup disk ratio (VCDR), best corrected visual acuity (BCVA), central corneal thickness (CCT), and axial length (AL) were recorded at baseline. Patients were followed up for 5 years to evaluate VF progression over time. Clinical information and allele frequencies of 14 SNPs were compared between patients who progressed and who did not within 5 years by multivariate logistic regression. Survival analysis was performed to evaluate the contribution of the associated SNP by cox regression. Greater MD (P < 0.0001), increased VCDR (P = 0.0001), higher IOP (P = 0.0003), worse BCVA (P = 0.002), and older age (P = 0.030) at the baseline were associated with VF progression. Both multivariate logistic regression and cox regression survival analysis showed none of the 14 SNPs statistically associated with VF progression adjusted with age at diagnosis, gender, baseline MD, follow-up IOP, CCT, and AL. There were lack of association of SNPs at TGFBR3-CDC7, TMCO1, ATOH7, CDKN2B-AS1, SIX1/SIX6 loci with VF progression in POAG patients in Han Chinese. Further studies are needed to evaluate the association of genetic variants with VF progression.
Highlights
Glaucoma is the leading cause of irreversible blindness all over the world and primary open angle glaucoma (POAG) is the most common type of glaucoma
We investigated whether published genetic markers of POAG associated with visual field (VF) progression by following a Han Chinese cohort, in order to evaluate the contribution of genetic factors to the progression of glaucoma
Patients with initial intraocular pressure (IOP) > 21 mmHg were diagnosed as high tension glaucoma (HTG), while the patients with IOP ≤ 21 mmHg were diagnosed as normal tension glaucoma (NTG)
Summary
Glaucoma is the leading cause of irreversible blindness all over the world and primary open angle glaucoma (POAG) is the most common type of glaucoma. The estimate for blindness of POAG at 15 years was 14.6% in one eye and was 6.4% in both eyes from a relatively recent study (Chen, 2003). Previous studies have revealed older age, higher intraocular pressure (IOP), greater visual field (VF) loss, the presence of optic disk hemorrhage and other risk factors are associated with VF progression (Leske et al, 2003, 2007; Musch et al, 2009; Prata et al, 2010; De Moraes et al, 2011; Kim et al, 2015), identifying molecular genetic factors underlying POAG progression in further would be helpful to understand the pathogenic mechanism of the disease at a molecular level and potentially develop method to control the disease. Many genes were identified to be significantly associated with POAG, such as CDKN2B-AS1 (cyclin-dependent kinase inhibitor 2B antisense RNA 1) (Burdon et al, 2011, 2012), TMCO1 (transmembrane and coiled-coil domain 1) (Burdon et al, 2011; Wiggs et al, 2012), SIX1-SIX6 (sin oculis homeobox 1/sin oculis homeobox 6) (Fan et al, 2011; Wiggs et al, 2012), ATOH7 (atonal bHLH transcription factor 7) (Ramdas et al, 2011), TGFBR3CDC7 (transforming growth factor beta receptor 3- cell division cycle 7) (Khor et al, 2011; Li et al, 2015), and et al
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