Penetrance of gene mutation in primary open-angle glaucoma: A systematic review and meta-analysis.

Purpose: To investigate the penetrance of gene mutation in primary open-angle glaucoma (POAG) through systematic review and meta-analysis. To explore the factors affecting the penetrance of and provide evidence-based medical evidence for clinical work.

Methods: We searched all studies that reported the penetrance of mutation in PubMed, Embase, Web of Science, and Chinese databases including Wanfang, CNKI (China National Knowledge Infrastructure), and CBM (China Bio-Med). Random effects meta-analysis was conducted to estimate the penetrance of mutation in POAG.

Results: Fifty-two studies were included in this analysis after screening. Meta-analysis of the penetrance of mutation showed that the penetrance of mutation in POAG was 60% (95% CI: 51.0% to 68.0%) and the penetrance of mutation in POAG and suspected POAG was 68% (95% CI: 60.0% to 75.0%). The penetrance of mutation increases with age. Among Caucasians, Asians, and Africans, the penetrance of mutation in POAG was 55%, 71%, 54%, respectively, and the penetrance of mutation in POAG and suspected POAG was 64%, 83%, and 57%, respectively. Besides, the penetrance of different mutation sites was significantly discrepant. The penetrance of mutation in POAG ranged from 10.3% to 100% depending on the mutation sites. Some mutation sites have a certain population specificity, which is only pathogenic in Caucasians or Asians.

Conclusions: The penetrance of mutation in POAG showed significant differences due to different mutation sites. The penetrance increased with the accrescent of age. Ethnic difference was an important factor affecting the penetrance of mutation. Knowing the rules and influencing factors of the penetrance of mutations is significant for the assessment of the risk of POAG in carriers with the mutation.