Common Variants rs429358 and rs7412 in APOE Gene Are Not Associated with POAG in a Saudi Cohort.

Simple Summary: Glaucoma is a common eye condition linked to genes and aging. We studied genetic factors related to primary open-angle glaucoma (POAG) in adult Arabs from Saudi Arabia. We focused on two specific variations in apolipoprotein gene (APOE), namely rs429358 and rs7412, to examine whether these variations are more common in people with POAG. We compared the DNA from 179 people with POAG and 251 without. Our results showed that these genetic changes were not significantly linked to POAG. We also checked different combinations of these variations but did not observe a strong connection with POAG risk. The gene variations also did not affect eye pressure or other eye indicators, such as cup/disc, ratio linked to POAG. Overall, in our Saudi group, these specific gene variations do not seem to be major factors causing POAG. However, more studies with larger groups are needed to confirm this. Adult-onset glaucoma, an age-related neurodegenerative disease, is very prevalent among the elderly Arabs of Saudi origin. This study investigated the association between apolipoprotein E (APOE) gene variants (rs429358 and rs7412) and primary open-angle glaucoma (POAG) in Arabs of Saudi origin. A case-control genetic association study involving 179 POAG patients and 251 controls utilized Sanger sequencing to genotype APOE gene variants. The allele frequencies and genotype distributions for rs429358 and rs7412 did not show significant associations with POAG. The haplotype analysis revealed apoε3 (87.6% and 87.4%) as the most prevalent, followed by ε4 (2.8% and 3.6%) and ε2 (9.6% and 8.9%) in the controls and POAG patients, respectively. Although the ε2/ε3 genotype and ε2-carriers displayed a more than two-fold increased risk, statistical significance was not reached. Notably, these polymorphisms did not affect clinical markers, such as intraocular pressure and cup/disc ratio. The logistic regression analysis demonstrated no significant influence of age, sex, rs429358, or rs7412 polymorphisms on POAG. In conclusion, within the Saudi cohort, APOE variants (rs429358 and rs7412) do not appear to be associated with POAG and are not substantial risk factors for its development. However, additional population-based studies are required to validate these findings. [ABSTRACT FROM AUTHOR]