Abstract
BACKGROUND: The association between polymorphisms in the ATP-binding cassette transporter A1 (ABCA1) gene and the risk of developing glaucoma has yielded conflicting results across various studies. This meta-analysis aims to comprehensively assess whether genetic variations in ABCA1 significantly contribute to the susceptibility to glaucoma. METHODS: An extensive search was conducted across major databases, including PubMed, EMBASE, and the China National Knowledge Infrastructure (CNKI), covering all publications from the inception of each database through December 2023. Odds ratios (ORs) with 95% confidence intervals (CIs) were calculated to quantify the strength of the association between ABCA1 polymorphisms and glaucoma risk. RESULTS: A significant association was observed between ABCA1 gene polymorphisms and glaucoma risk in the overall analysis, as demonstrated by allele contrast (P < .001), homozygote comparison (P < .001), heterozygote comparison (P < .001), recessive genetic model (P = .017), and dominant genetic model (P < .001). Notably, these associations were particularly pronounced in the Asian population, with all models showing statistical significance (P < .05). However, no significant association was detected in Caucasian or mixed populations, suggesting a potential ethnic specificity in the genetic susceptibility to glaucoma conferred by ABCA1 polymorphisms. CONCLUSIONS: Our findings indicate that ABCA1 polymorphisms may play a role in increasing the risk of glaucoma, specifically within Asian populations. This contrast highlights the importance of considering ethnic background in genetic association studies.