Narsani Ashok Kumar, Khidri Feriha Fatima, Rafiq Muhammad, Bai Jalpa, Shaikh Hina, Waryah Yar Muhammad, Naqvi Syed Habib Ahmed, Kumari Preety, Lohano Mahesh Kumar, Waryah Ali Muhammad
Institute of Biotechnology & Genetic Engineering, University of Sindh, Jamshoro 76090, Pakistan.
Institute of Ophthalmology, Liaquat University of Medical and Health Sciences Jamshoro, Jamshoro 76090, Pakistan.
Int J Ophthalmol. 2024 Dec 18;17(12):2185-2191. doi: 10.18240/ijo.2024.12.05. eCollection 2024.
To find out the association of secreted protein acidic and rich in cysteine (SPARC)-related modular calcium binding 2 () gene variants rs2255680 and rs13208776 with genotypic and phenotypic characteristics in both familial and non-familial primary open angle glaucoma (POAG) patients.
A total of 212 POAG patients, comprising 124 familial and 88 non-familial, were enrolled. For genotyping the variant rs2255680, amplification refractory mutation system (ARMS)-polymerase chain reaction (PCR) method and PCR-restriction fragment length polymorphism (PCR-RFLP) were utilized for analyzing rs13208776 variant.
The mean age of familial POAG patients was 50.92±9.12y, with 78 males and 46 females. The mean age of non-familial POAG patients was 53.14±13.44y, with 52 males and 36 females. The gene variant rs13208776 showed the significant association with POAG between familial and non-familial groups. The homozygous G/G variant was frequent among non-familial (60.2%) whereas the heterozygous G/A variant was more frequent in familial POAG patients (46%). There were significant differences in G/A variant between familial and non-familial glaucoma patients, and the risk was decreased to 0.53-fold in non-familial glaucoma patients [odds ratio (OR): 0.53; 95% confidence interval (CI): 0.29-0.94; =0.033] in codominant model. The risk was further reduced to 0.49-fold (95%CI: 0.28-0.86; =0.012) in dominant model for non-familial patients. No significant association of gene variant rs2255680 between familial and non-familial glaucoma patients was found in our population. The haplotype analysis showed the decreased risk for TA [OR: 0.48 (95%CI: 0.29-0.79); =0.004] and an increased risk for TG [OR=2.28 (95%CI: 1.22-4.25); =0.01] haplotypes.
Current findings show significant association of gene variant rs13208776 with POAG between familial and non-familial Pakistani patients.
探究富含半胱氨酸的酸性分泌蛋白（SPARC）相关模块化钙结合2（）基因变体rs2255680和rs13208776与家族性和非家族性原发性开角型青光眼（POAG）患者的基因型及表型特征之间的关联。
共纳入212例POAG患者，其中124例为家族性患者，88例为非家族性患者。对于基因变体rs2255680的基因分型，采用扩增阻滞突变系统（ARMS）-聚合酶链反应（PCR）方法，而对于rs13208776变体则采用PCR-限制性片段长度多态性（PCR-RFLP）进行分析。
家族性POAG患者的平均年龄为50.92±9.12岁，男性78例，女性46例。非家族性POAG患者的平均年龄为53.14±13.44岁，男性52例，女性36例。基因变体rs13208776在家族性和非家族性组的POAG之间显示出显著关联。纯合子G/G变体在非家族性患者中较为常见（60.2%），而异合子G/A变体在家族性POAG患者中更为常见（46%）。家族性和非家族性青光眼患者之间的G/A变体存在显著差异，在共显性模型中，非家族性青光眼患者的风险降至0.53倍[比值比（OR）：0.53；95%置信区间（CI）：0.29 - 0.94；=0.033]。在非家族性患者的显性模型中，风险进一步降至0.49倍（95%CI：0.28 - 0.86；=0.012）。在我们的研究人群中，未发现基因变体rs2255680在家族性和非家族性青光眼患者之间存在显著关联。单倍型分析显示，TA单倍型的风险降低[OR：0.48（95%CI：0.29 - 0.79）；=0.004]，而TG单倍型的风险增加[OR = 2.28（95%CI：1.22 - 4.25）；=0.01]。
目前的研究结果表明，基因变体rs13208776与巴基斯坦家族性和非家族性患者的POAG之间存在显著关联。
