沙特原发性开角型青光眼患者细胞周期蛋白依赖性激酶抑制剂-2B rs1063192多态性分析
Analysis of Cyclin-Dependent Kinase Inhibitor-2B rs1063192 Polymorphism in Saudi Patients with Primary Open-Angle Glaucoma.
作者信息
Abu-Amero Khaled K, Kondkar Altaf A, Mousa Ahmed, Almobarak Faisal A, Alawad Abdullah, Altuwaijri Saleh, Sultan Tahira, Azad Taif A, Al-Obeidan Saleh A
机构信息
1 Glaucoma Research Chair, Department of Ophthalmology, College of Medicine, King Saud University , Riyadh, Saudi Arabia .
2 Department of Ophthalmology, College of Medicine, University of Florida , Jacksonville, Florida.
出版信息
Genet Test Mol Biomarkers. 2016 Oct;20(10):637-641. doi: 10.1089/gtmb.2016.0140. Epub 2016 Aug 19.
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.
目的
研究细胞周期蛋白依赖性激酶抑制剂2B（CDKN2B）基因中的rs1063192（A>G）多态性是否为原发性开角型青光眼（POAG）的危险因素。
方法
进行了一项病例对照研究，其中我们使用Taq-Man分析法对来自沙特阿拉伯的87例无亲缘关系的POAG病例和94例对照受试者进行基因分型。
结果
POAG病例中的次要等位基因频率为0.20，对照中的为0.21。病例组和对照组的基因型和等位基因频率均无显著差异。除突变纯合基因型（G/G）与青光眼家族史相关外（p = 0.024），未发现基因型与青光眼临床指标之间存在显著关联。
结论
CDKN2B中的rs1063192多态性不是沙特人群中POAG的危险因素。
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