Al-Dabbagh Najwa, Al-Shahrani Hamoud, Al-Dohayan Nourah, Mustafa Md, Arfin Misbahul, Al-Asmari Abdulrahman K
Department of Ophthalmology.
Research Center, Prince Sultan Military Medical City, Riyadh, Saudi Arabia.
Clin Ophthalmol. 2017 Mar 20;11:549-555. doi: 10.2147/OPTH.S126459. eCollection 2017.
Primary glaucomas are among the most common eye diseases that may potentially result in bilateral blindness. Both genetics and environmental factors are reported to be involved in the etiology of primary glaucomas. Secreted protein acidic and rich in cysteine (SPARC)-related modular calcium binding protein 2 (SMOC2) is a matricellular glycoprotein encoded by the gene and known to regulate the expression of extracellular matrix (ECM) proteins and matrix metalloproteinases (MMPs), which play an important role in the pathogenesis of primary glaucomas. The frequencies of alleles and genotypes of variants were examined in 406 Saudi subjects, including primary open angle glaucoma (POAG, n=140) and primary angle closure glaucoma (PACG, n=64) patients and 202 matched healthy controls using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) technique. Genotyping of polymorphism (rs13208776) revealed a significantly higher frequency of the heterozygous genotype GA (<0.01) and a lower frequency of wild type GG genotype (=0.05) in glaucoma patients compared to the controls. Upon stratification of the patients on the basis of types of glaucoma, PACG patients had a significantly higher frequency of GA genotype as compared to the controls (<0.01), whereas there was no significant difference between the POAG patient and control groups in frequencies of alleles and genotypes. Further, there was no significant difference in frequency distribution of alleles and genotypes between male and female patients. This study indicates that the GA genotype of (G>A) polymorphism is significantly associated with PACG and may be a risk factor. However, further large-scale studies in the Saudi population as well as in other ethnic populations are needed to confirm this association.
原发性青光眼是最常见的可导致双侧失明的眼部疾病之一。据报道，原发性青光眼的病因涉及遗传和环境因素。分泌性富含半胱氨酸的酸性蛋白（SPARC）相关模块化钙结合蛋白2（SMOC2）是一种由该基因编码的基质细胞糖蛋白，已知其可调节细胞外基质（ECM）蛋白和基质金属蛋白酶（MMPs）的表达，而这些蛋白在原发性青光眼的发病机制中起重要作用。使用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）技术，在406名沙特受试者中检测了该变体的等位基因和基因型频率，这些受试者包括原发性开角型青光眼（POAG，n = 140）和原发性闭角型青光眼（PACG，n = 64）患者以及202名匹配的健康对照。该多态性（rs13208776）的基因分型显示，与对照组相比，青光眼患者中杂合基因型GA的频率显著更高（<0.01），野生型GG基因型的频率更低（=0.05）。根据青光眼类型对患者进行分层后，与对照组相比，PACG患者中GA基因型的频率显著更高（<0.01），而POAG患者组与对照组在该等位基因和基因型频率上无显著差异。此外，男性和女性患者在等位基因和基因型的频率分布上无显著差异。这项研究表明，该（G>A）多态性的GA基因型与PACG显著相关，可能是一个危险因素。然而，需要在沙特人群以及其他种族人群中进行进一步的大规模研究来证实这种关联。
