Abstract

Primary open-angle glaucoma (POAG) is one of the leading causes of blindness worldwide. The association between the APOE ε2/ε3/ε4 polymorphism and the risk of POAG has been widely reported, but the results of previous studies remain controversial. To comprehensively evaluate the APOE ɛ2/ɛ3/ε4 polymorphism on the genetic risk for POAG, we performed a systematic review and meta-analysis of previously published studies. The PubMed and Web of Science databases were systematically searched to identify relevant studies. Data were extracted from these studies and odds ratios with corresponding 95% confidence intervals were computed to estimate the strength of the association. Stratified analyses according to ethnicity and sensitivity analyses were also conducted for further confirmation. A total of nine studies were eligible for the meta-analysis, and these studies included data on 1928 POAG cases and 1793 unrelated match controls. The combined results showed that there were no associations between the APOE ε2/ε3/ε4 polymorphism and POAG risk in any of the 10 comparison models. The analysis that was stratified by ethnicity subgroups also failed to reveal a significant association. The sensitivity analysis confirmed the stability and reliability of the findings. There was no risk of publication bias. Our meta-analysis provides strong evidence that the APOE ε2/ε3/ε4 polymorphism is not associated with POAG susceptibility in any populations.

Highlights

  • Glaucoma is defined as a multifactorial optic neuropathy that is characterized by a progressive loss of retinal ganglion cells in the optic disc or retinal nerve fiber [1]

  • Identification and eligibility of relevant studies Systematic literature searched of the Pubmed and Web of Science databases were performed to identify relevant studies that have investigated the association between Primary open-angle glaucoma (POAG) risk and the APOE ε2/ε3/ε4 polymorphism using the following search terms: “apolipoprotein E or APOE” and “glaucoma or POAG”

  • Studies included in the current meta-analysis had to meet the following criteria: (1) contain evaluations of the APOE ε2/ε3/ε4 polymorphism and POAG risk, (2) have an unrelated case-control design, and (3) have sufficient data to estimate an odds ratio (OR) and its 95%confidence intervals (CIs)

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Summary

Introduction

Glaucoma is defined as a multifactorial optic neuropathy that is characterized by a progressive loss of retinal ganglion cells in the optic disc or retinal nerve fiber [1]. Several genes have been reported to be associated with POAG, and the apolipoprotein E (APOE) gene has received increasing attention [8,9,10,11,12]. The APOE gene has been mapped to the 19q13 region, and its common polymorphism has three alleles in exon 4, namely, ε2, ε3, and ε4. These three alleles define the following six APOE phenotypes:ε2/ε2, ε3/ε3, ε4/ε4, ε2/ε3, ε2/ε4, and ε3/ε4. A great number of molecular epidemiological studies have been performed to evaluate the association between APOE gene polymorphisms and POAG susceptibility in diverse populations, but results are somewhat controversial and underpowered likely because of the limitations of limitation of individual studies. We carried out this meta-analysis to determine whether this polymorphism is associated with the risk of APOE by collecting and sorting previously published studies

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