Abstract
Single nucleotide polymorphisms (SNPs) in the gene encoding LOXL1 are risk factors for exfoliation syndrome and exfoliation glaucoma. This meta-analysis comprehensively investigated the association between LOXL1 gene polymorphisms (rs1048661, rs3825942, and rs2165241) and the risk of exfoliation syndrome/exfoliation glaucoma (XFS)/(XFG). All eligible case-control studies, published before August 17, 2020, were searched on Medline (Ovid), PubMed, CNKI, EMBASE, and Wanfang databases. In total, 5022 cases and 8962 controls were included in this meta-analysis. Significant associations between LOXL1 gene polymorphisms and XFS/XFG risk was observed in the disease types-based subgroups. In addition, in the subgroup analysis of ethnicity, positive associations between LOXL1 gene polymorphisms (rs1048661, rs3825942, and rs2165241) and XFS/XFG risk were found in Caucasians. Furthermore, rs1048661 and rs3825942 polymorphisms were related to XFS/ XFG risk in Asians; however, no significant association was observed between the LOXL1 gene rs2165241 polymorphism and XFS/XFG risk in Asians. In addition, rs1048661 and rs3825942 correlated with XFS/XFG susceptibility in Africans. Our results implicate LOXL1 gene polymorphisms as XFS/XFG risk factors, especially in Caucasians.
Highlights
Exfoliation syndrome (XFS) is an age-related, generalized disorder of the extracellular matrix characterized by progressive accumulation of abnormal fibrillar material in intra- and extraocular tissues [1, 2]
Single nucleotide polymorphisms (SNPs) in the gene encoding lysyl oxidase-like 1 (LOXL1) are risk factors for exfoliation syndrome and exfoliation glaucoma. This meta-analysis comprehensively investigated the association between LOXL1 gene polymorphisms and the risk of exfoliation syndrome/exfoliation glaucoma (XFS)/(XFG)
Significant associations between LOXL1 gene polymorphisms and XFS/XFG risk was observed in the disease types-based subgroups
Summary
Exfoliation syndrome (XFS) is an age-related, generalized disorder of the extracellular matrix characterized by progressive accumulation of abnormal fibrillar material in intra- and extraocular tissues [1, 2]. It is estimated to affect around 80 million people worldwide, and 10–20% of people aged >60 years are severely affected by XFS [3, 4]. This disorder is associated with a progressive form of chronic open-angle glaucoma [2] and is the second most common cause of irreversible blindness globally. Exfoliation glaucoma (XFG) is the most common form of secondary open-angle glaucoma and occurs in the context of XFS [4, 5]. XFG is characterized by deposition of exfoliation material in the anterior segment of the eyes, obstructing aqueous humor outflow, resulting in elevated intraocular pressure and secondary open-angle glaucoma [7]. This meta-analysis comprehensively investigated the association between LOXL1 gene polymorphisms (rs1048661, rs3825942, and rs2165241) and the risk of exfoliation syndrome/exfoliation glaucoma (XFS)/(XFG)
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