Association of Gene Polymorphisms With Primary Open Angle Glaucoma: A Systematic Review and Meta-Analysis

Area of Science:

• Genetics
• Ophthalmology
• Molecular Biology

Background:

• Primary open-angle glaucoma (POAG) is a leading cause of irreversible blindness worldwide.
• Genetic factors play a significant role in POAG pathogenesis, but specific associations require further elucidation.

Purpose of the Study:

• To systematically confirm the association between commonly reported genetic polymorphisms and the risk of developing POAG.
• To consolidate evidence from existing genetic studies through a comprehensive meta-analysis.

Main Methods:

• A systematic literature search was conducted in PubMed and Web of Science databases up to January 10, 2018.
• Included were case-control studies investigating single-nucleotide polymorphisms (SNPs) and POAG risk.
• Meta-analysis employed fixed- or random-effect models to calculate pooled odds ratios (ORs) with 95% confidence intervals (CIs).

Main Results:

• The meta-analysis encompassed 108 case-control studies with 35,389 POAG cases and 51,742 controls.
• A significant association with POAG risk was found for 20 SNPs across 12 genes, including APE1, APOE, CAV1/CAV2, MMP, OPTN, PLXDC2, SLC23A2, TIMP1, TLR4, TMCO1, XRCC1, and ZP4.
• Specific SNPs identified include 148Asp/Glu in APE1, rs449647 in APOE, and multiple SNPs in TLR4 and ZP4.

Conclusions:

• Twenty SNPs in 12 distinct genes are identified as potential predictive risk factors for POAG.
• Further research with larger sample sizes and diverse ethnic cohorts is recommended to strengthen the evidence base for these genetic associations.