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Abstract #79089 Published in IGR 20-1

Lack of Association between Variant rs7916697 in and Primary Open Angle Glaucoma in a Saudi Cohort

Kondkar AA; Azad TA; Almobarak FA; Bahabri IM; Kalantan H; Abu-Amero KK; Al-Obeidan SA
Genetics research international 2018; 2018: 2148056


A case-control genetic association study was performed to investigate whether variant rs7916697 in (), which has been previously reported to be associated with optic disc parameters and primary open angle glaucoma (POAG) in different ethnic groups, is a risk factor for POAG or any of its clinical phenotypes in a Saudi cohort. Genotyping of rs7916697 (G>A) variant was performed in 186 unrelated POAG cases and 171 unrelated nonglaucomatous controls of Saudi origin using real-time Taq-Man® assay. Genotypic and allelic association with POAG and its related clinical indices were evaluated. Demographic and systemic disease status did not differ significantly between POAG cases and controls. Association analysis between POAG cases and controls showed no significant genotype effect under additive (p=0.707), dominant (p=0.458), and recessive (p=0.554) models. Besides, the minor 'A' allele frequency was 0.39 in POAG cases and 0.36 in controls with no significant distribution (p=0.406). In addition, there was no significant difference between genotypes and clinical phenotypes such as intraocular pressure and cup/disc ratio within the POAG group, or any age and sex adjusted genotype effect on the disease outcome in regression analysis. Variant rs7916697 in is not associated with POAG or its clinical indices such as IOP and cup/disc ratio in a Saudi cohort.

Glaucoma Research Chair, Department of Ophthalmology, College of Medicine, King Saud University, Riyadh, Saudi Arabia.

Full article

Classification:

3.4.2 Gene studies (Part of: 3 Laboratory methods > 3.4 Molecular genetics)



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