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International Journal of Advances In Case Reports

Volume 11, Issue 1, 2024
Mcmed International
International Journal of Advances In Case Reports
Issn
XXX-XXXX (Print), 2349 - 8005 (Online)
Frequency
bi-annual
Email
editorijacr@mcmed.us
Journal Home page
http://mcmed.us/about/ijacr
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Abstract
Title
ANALYSIS OF CDKN2B-AS1 SNP RS2157719 IN SAUDI PATIENTS WITH PRIMARY OPEN ANGLE GLAUCOMA
Author
Khaled K. Abu-Amero*
Email
abuamero@gmail.com
keyword
Genotype, Various Clinical indices.
Abstract
Aims to investigate whether SNP rs2157719 in the CDKN2B-AS1 gene is associated with POAG or any of its clinical indices in a Saudi cohort. Eight-five unrelated POAG cases and 95 controls of Saudi origin were genotyped utilizing Taq-Man® assay. The association between genotypes and various clinical indices important for POAG was investigated. Comparison of the genotype and allelic frequency among cases and controls were not significantly different. The genotype frequencies did not deviate significantly from the HWE (p>0.05). There was no statistically significant difference between patients and controls for both heterozygous (A/G) and homozygous (G/G) genotypes, p values were 0.988 and 0.281 respectively. Similarly, the mutated allele (G) had similar frequencies in both groups. However, Statistically significant differences were observed between homozygous mutant genotype (G/G) and family history of glaucoma (p= 0.018), smoking (p= 0.033) and awareness of glaucoma (p= 0.039). SNP rs2157719 in the CDKN2B-AS1 is important risk factor for certain clinical indices associated with POAG.
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