![Sample our Bioscience journals, sign in here to start your access, Latest two full volumes FREE to you for 14 days]({"type":"image" , "src" : "/sda/5925/TOC-Subject-Sample-2021-Bioscience.jpg"})
Abstract
Background: Ephrin receptors (Ephs) are tyrosine kinases that together with their ligands, ephrins, are considered important in cell–cell communication, especially during embryogenesis but also for epithelium homeostasis. Studies have demonstrated the involvement of mutations or common variants of the gene encoding Eph receptor A2 (EPHA2), in congenital cataract and in age-related cataract. This study investigated a number of disease-associated single nucleotide polymorphisms (SNPs) in EPHA2 in patients with age-related cataract.
Materials and methods: The study included 491 Estonian patients who had surgery for age-related cataract, classified as nuclear, cortical, posterior subcapsular and mixed lens opacities, and 185 controls of the same ethnical origin. Seven SNPs in EPHA2 (rs7543472, rs11260867, rs7548209, rs3768293, rs6603867, rs6678616, rs477558) were genotyped using TaqMan Allelic Discrimination. Statistical analyses for single factor associations used χ2-test and logistic regression was performed including relevant covariates (age, sex and smoking).
Results: In single-SNP allele analysis, only the rs7543472 showed a borderline significant association with risk of cataract (p = 0.048). Regression analysis with known risk factors for cataract showed no significant associations of the studied SNPs with cataract. Stratification by cataract subtype did not alter the results. Adjusted odds ratios were between 0.82 and 1.16 (95% confidence interval 0.61–1.60).
Conclusions: The present study does not support a major role of EphA2 in cataractogenesis in an Estonian population.
Declaration of interest
The authors report no conflict of interest. The authors alone are responsible for the content and writing of this article.
Funding
This work was supported by grants from the Swedish Research Council (#2011-3132), the Swedish government (“Agreement concerning research and education of doctors”; ALF-GBG-145921), Göteborg Medical Society, Marianne and Marcus Wallenberg Foundation, Stiftelsen Handlanden Hjalmar Svenssons forskningsfond, Stiftelsen Handlanden Herman Svenssons fond för blinda och synsvaga, Greta Anderson’s Foundation, Edwin Jordan’s Foundation, Reinhard Marcuses’ Foundation, Ögonfonden, De Blindas Vänner, Konung Gustaf V:s och Drottning Victorias Frimurarestiftelse, and Kronprinsessan Margaretas Arbetsnämnd för Synskadade.