Common Variants Rs429358 and Rs7412 in Gene Are Not Associated with POAG in a Saudi Cohort

Overview

Journal Biology (Basel)

Publisher MDPI

Specialty Biology

Date 2024 Jan 26

PMID 38275738

Authors

Altaf A Kondkar

Tahira Sultan

Taif A Azad

Tanvir Khatlani

Abdulaziz A Alshehri

Essam A Osman

Glenn P Lobo

Faisal A Almobarak

Saleh A Al-Obeidan

Affiliations

Soon will be listed here.

Abstract

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 () 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 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, 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.

Citing Articles

ε2-Carriers Are Associated with an Increased Risk of Primary Angle-Closure Glaucoma in Patients of Saudi Origin.

Kondkar A, Azad T, Sultan T, Khatlani T, Alshehri A, Radhakrishnan R Int J Mol Sci. 2024; 25(8).

PMID: 38674156 PMC: 11050284. DOI: 10.3390/ijms25084571.

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