Analysis of Cyclin-Dependent Kinase Inhibitor-2B rs1063192 Polymorphism in Saudi Patients with Primary Open-Angle Glaucoma.
PMID 27541204 | DOI 10.1089/gtmb.2016.0140 · Genetic testing and molecular biomarkers · 2016 · View on PubMed ↗
AIMS: To investigate whether the polymorphism rs1063192 (A>G) in the cyclin-dependent kinase Inhibitor-2B (CDKN2B) gene is a risk factor for primary open-angle glaucoma (POAG). METHOD: A case-control study was conducted wherein we genotyped 87 unrelated POAG cases and 94 control subjects from Saudi Arabia using the Taq-Man® assay. RESULTS: The minor allele frequency was 0.20 in POAG cases and 0.21 in controls. Both the genotype and allele frequencies were not significantly different between cases and controls. No significant association was found between genotypes and glaucoma clinical indices, except that the mutant homozygous genotype (G/G) was associated with the family history of glaucoma (p = 0.024). CONCLUSION: Polymorphism rs1063192 in CDKN2B is not a risk factor for POAG in Saudi cohort.
Validated evidence
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | CDKN2B | “AIMS: To investigate whether the polymorphism rs1063192 (A>G) in the cyclin-dependent kinase Inhibitor-2B (CDKN2B) gene is a risk factor for primary open-angle glaucoma (POAG).” | 0.98 | hgnc_dict_v1 |
| population | Saudi Arabia | “Analysis of Cyclin-Dependent Kinase Inhibitor-2B rs1063192 Polymorphism in Saudi Patients with Primary Open-Angle Glaucoma. METHOD: A case-control study was conducted wherein we genotyped 87 unrelated POAG cases and 94 control subjects from Saudi Arabia using the Taq-Man® assay. CONCLUSION: Polymorphism rs1063192 in CDKN2B is not a risk factor for POAG in Saudi cohort.” | 0.95 | saudi_context_rules_v1 |
| variant | rs1063192 | “Analysis of Cyclin-Dependent Kinase Inhibitor-2B rs1063192 Polymorphism in Saudi Patients with Primary Open-Angle Glaucoma.” | 0.90 | hgvs_regex_v1 |