Kondkar Altaf A, Azad Taif A, Sultan Tahira, Al-Mobarak Faisal A, Kalantan Hatem, Al-Obeidan Saleh A
Department of Ophthalmology, College of Medicine, King Saud University, P.O. Box 245, Riyadh, 11411, Saudi Arabia.
Glaucoma Research Chair in Ophthalmology, College of Medicine, King Saud University, Riyadh, Saudi Arabia.
BMC Res Notes. 2019 Jul 23;12(1):453. doi: 10.1186/s13104-019-4491-x.
The genetic spectrum of primary open-angle glaucoma (POAG) in middle-eastern Saudi's is still elusive. To this end, we investigated an association between rs693421, rs2499601 and their haplotypes at chromosome 1q43 locus with POAG and its related clinical phenotypes. Genotyping was performed with TaqMan assays. Haplotypes and their interaction analysis were carried out by SHEsis and SNPStats online tools.
The minor "T" allele frequency of rs693421 was 0.48 in controls and 0.52 in cases (odds ratio (OR) = 1.15, 95% confidence interval (CI) 0.85-1.54, p = 0.368). Similarly, for rs2499601, the minor "C" allele frequency was 0.49 in controls as compared to 0.53 in cases (OR = 1.19, 95% CI 0.89-1.60, p = 0.236). Besides, genotype distribution for both these polymorphisms was also not significant in additive, dominant and recessive models. rs693421 and rs2499601, showed significant linkage disequilibrium (D' statistics = 0.69, p < 0.001) but haplotype association was non-significant (p = 0.698). The significance did not vary after adjustment to age and sex. No significant genotype association was observed with intraocular pressure, cup/disc ratio and number of anti-glaucoma medication in POAG group. Furthermore, age, sex and genotypes did not contribute any significant risk of POAG in regression analysis. We report no association between rs693421, rs2499601 and their haplotypes with POAG and related phenotypes.
中东沙特人群原发性开角型青光眼（POAG）的基因谱仍不明确。为此，我们研究了位于1q43染色体位点的rs693421、rs2499601及其单倍型与POAG及其相关临床表型之间的关联。采用TaqMan分析进行基因分型。通过SHEsis和SNPStats在线工具进行单倍型及其相互作用分析。
rs693421的次要“T”等位基因频率在对照组中为0.48，在病例组中为0.52（优势比（OR）=1.15，95%置信区间（CI）0.85 - 1.54，p = 0.368）。同样，对于rs2499601，次要“C”等位基因频率在对照组中为0.49，病例组中为0.53（OR = 1.19，95% CI 0.89 - 1.60，p = 0.236）。此外，在加性、显性和隐性模型中，这两种多态性的基因型分布也无显著差异。rs693421和rs2499601显示出显著的连锁不平衡（D'统计量 = 0.69，p < 0.001），但单倍型关联无统计学意义（p = 0.698）。在调整年龄和性别后，其显著性没有变化。在POAG组中，未观察到与眼压、杯盘比和抗青光眼药物使用数量有显著的基因型关联。此外，在回归分析中，年龄、性别和基因型对POAG没有显著的风险贡献。我们报告rs693421、rs2499601及其单倍型与POAG及相关表型之间无关联。
