Kondkar Altaf A, Azad Taif A, Almobarak Faisal A, Kalantan Hatem, Sultan Tahira, Alsabaani Nasser A, Al-Obeidan Saleh A, Abu-Amero Khaled K
1 Glaucoma Research Chair, Department of Ophthalmology, College of Medicine, King Saud University , Riyadh, Saudi Arabia .
2 Ophthalmology Department, College of Medicine, King Khalid University , Abha, Saudi Arabia .
Genet Test Mol Biomarkers. 2018 Jan;22(1):74-78. doi: 10.1089/gtmb.2017.0159. Epub 2017 Nov 30.
Variant rs10483727 in the SIX1/SIX6 locus has been significantly associated with primary open angle glaucoma (POAG) in multiple ethnic groups. We conducted a case-control study to investigate the association between this variant and POAG in a Saudi cohort.
Polymorphism rs10483727 was genotyped by using a TaqMan assay in 186 subjects comprising 92 unrelated POAG cases and 94 controls all of Saudi origin.
The "C" allele frequency was 0.33 and 0.45 among POAG cases and controls, respectively (odds ratio [OR] = 0.58, 95% confidence interval [CI] = 0.38-0.89; p = 0.013), suggesting a protective effect; and the "T" allele was associated with increased susceptibility to POAG (OR = 1.7, 95% CI = 1.11-2.58; p = 0.013). Genotype distribution was also significantly associated with POAG (χ = 6.41, df = 2, p = 0.041). Endophenotype traits such as intraocular pressure and cup/disk ratio did not show any significant genotype distribution in POAG cases. A binary logistic regression analysis used to evaluate the effects of age, gender, and genotype on the likelihood of having POAG showed that genotype distribution (p = 0.012) significantly affected the disease outcome as compared with age (p = 0.055) and sex (p = 0.432).
The "T" allele of the rs10483727 polymorphism is an independent significant risk factor for POAG in the Saudi population.
SIX1/SIX6基因座中的rs10483727变异在多个种族群体中与原发性开角型青光眼（POAG）显著相关。我们进行了一项病例对照研究，以调查该变异与沙特人群中POAG的关联。
采用TaqMan分析法对186名受试者进行rs10483727多态性基因分型，其中包括92例无亲缘关系的POAG病例和94名均为沙特血统的对照。
POAG病例组和对照组中“C”等位基因频率分别为0.33和0.45（比值比[OR]=0.58，95%置信区间[CI]=0.38-0.89；p=0.013），表明具有保护作用；“T”等位基因与POAG易感性增加相关（OR=1.7，95%CI=1.11-2.58；p=0.013）。基因型分布也与POAG显著相关（χ=6.41，自由度df=2，p=0.041）。POAG病例的眼压和杯盘比等内表型特征未显示出任何显著的基因型分布。用于评估年龄、性别和基因型对患POAG可能性影响的二元逻辑回归分析表明，与年龄（p=0.055）和性别（p=0.432）相比，基因型分布（p=0.012）显著影响疾病结局。
rs10483727多态性的“T”等位基因是沙特人群中POAG的独立显著危险因素。
