Asif Roha, Khalid Ammara, Bashir Rasheeda, Aslam Komal, Yousaf Khazeema, Waseem Raazia
Department of Biotechnology, Lahore College for Women University, Lahore, 54000, Pakistan.
Department of Biotechnology, Kinnaird College for Women, Lahore, Pakistan.
Mol Biol Rep. 2025 Feb 4;52(1):191. doi: 10.1007/s11033-025-10292-x.
BACKGROUND: Primary Angle Closure Glaucoma (PACG) is a potentially devastating disease that causes optic nerve injury globally. METHODS: The enrollment of patients with PACG and healthy controls came from ophthalmology health centers in different hospitals in Punjab (n = 96 cases and n = 102 controls). PLEKHA7 rs216489 and rs11024102 alleles were genotyped by Tetra ARMS PCR. Binary Logistic Regression was applied to discover the relationship amid risk alleles with PLEKHA7. Genetic models were used to identify the risk of links among a specific inheritance pattern's genotype and phenotype. In silico analysis was performed to analyze the functional consequences and regulatory elements of both these polymorphisms. RESULTS: This study investigated that the patients affected with PACG have IOP and C/D ratio (17.43 ± 9.40 and 0.565 ± 0.5994 respectively) along with other clinical characteristics than healthy controls. The genotype distribution for PLEKHA7 rs216489 revealed no association with PACG. In contrast, in SNP rs11024102, the frequency of genotype AA is noticeably higher in PACG patients compared to controls. For genetic models, the dominant model of rs11024102 (P < 0.02) (OR = 2.335, 95% CI = 1.135-4.804) was discovered to be strongly associated to rise the pathogenicity of PACG. In silico examination predicted that both of the SNPs of the PLEKHA7 gene are causing benign mutations in nature and are less and more likely to be predicted as regulatory variants. CONCLUSION: This is the first study on PACG genotypes from Pakistan, and results suggest that PLEKHA7 (rs11024102) polymorphism is significantly associated with susceptibility to PACG in Punjab, Pakistan.
背景:原发性闭角型青光眼(PACG)是一种在全球范围内可导致视神经损伤的潜在毁灭性疾病。 方法:PACG患者和健康对照的招募来自旁遮普邦不同医院的眼科健康中心(96例患者和102例对照)。通过四引物扩增受阻突变系统PCR对PLEKHA7 rs216489和rs11024102等位基因进行基因分型。应用二元逻辑回归来发现PLEKHA7风险等位基因之间的关系。遗传模型用于确定特定遗传模式的基因型和表型之间联系的风险。进行了计算机模拟分析以分析这两种多态性的功能后果和调控元件。 结果:本研究调查发现,与健康对照相比,PACG患者除其他临床特征外,眼压和杯盘比分别为(17.43±9.40和0.565±0.5994)。PLEKHA7 rs216489的基因型分布与PACG无关联。相比之下,在SNP rs11024102中,PACG患者中基因型AA的频率明显高于对照。对于遗传模型,发现rs11024102的显性模型(P<0.02)(OR = 2.335,95%CI = 1.135 - 4.804)与PACG致病性增加密切相关。计算机模拟检查预测,PLEKHA7基因的两个SNP在本质上都导致良性突变,并且被预测为调控变异体的可能性越来越小。 结论:这是来自巴基斯坦的关于PACG基因型的第一项研究,结果表明PLEKHA7(rs11024102)多态性与巴基斯坦旁遮普邦PACG易感性显著相关。
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