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. 2025 Feb 4;52(1):191.
doi: 10.1007/s11033-025-10292-x.

Genetic association of single nucleotide polymorphisms in PLEKHA7 gene with primary angle closure glaucoma (PACG) in a Central-Eastern Punjab cohort of Pakistan

Roha Asif  1 , Ammara Khalid  1 , Rasheeda Bashir  2 , Komal Aslam  1   3 , Khazeema Yousaf  1 , Raazia Waseem  1
Affiliations

Genetic association of single nucleotide polymorphisms in PLEKHA7 gene with primary angle closure glaucoma (PACG) in a Central-Eastern Punjab cohort of Pakistan

Roha Asif et al. Mol Biol Rep. .

Abstract

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.

Keywords: PLEKHA7; rs11024102; rs216489; Glaucoma; PACG.

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Conflict of interest statement

Declarations. Competing interests: The authors declare no competing interests. Ethical approval: The study was conducted according to the guidelines of the Declaration of Helsinki, and approved by the Institutional Ethical Review Committee of Lahore College for Women University, Lahore (No. REF/NO/LCWU/BIOT/348; Dated 24-06-2016). We received permission letter of blood sampling from Mughal Eye Hospital and Data Darbar Hospital. Consent to participate: Written informed consent was obtained from the parents of the affected individuals of this family prior to the study. Consent for publication: The authors confirm that all of the data given in this study was published with the informed consent of parents and human research participants.

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