APOE genetic variability in an Egyptian cohort of PD

Funding Sponsor

American University in Cairo

Second Author's Department

Institute of Global Health & Human Ecology

Third Author's Department

Institute of Global Health & Human Ecology

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https://doi.org/10.3389/fnins.2025.1579968

All Authors

Eman M. Khedr Martina B. William Aliaa A. Elhosseiny Ali Shalash Gharib Fawi Mohamed H. Yousef Shaimaa El-Jaafary Hamin Lee Alina Jama Mohamed Koraym Asmaa Helmy Yara Salah Peter George Nourelhoda A. Haridy Samir Nabhan Agsha Atputhavadivel Sara Elfarrash Gaafar Ragab Mohamed Tharwat Hegazy Yasmin Elsaid Asmaa S. Gabr Nourhan Shebl Lobna Aly Nesreen Abdelwahhab Tamer M. Belal Nehal A.B. Elsayed Mohamed El-Gamal Shimaa Elgamal

Document Type

Research Article

Publication Title

Frontiers in Neuroscience

Publication Date

1-1-2025

doi

10.3389/fnins.2025.1579968

Abstract

Background: The apolipoprotein E (APOE) gene, encompassing three alleles (ε2, ε3, ε4), is a critical player in lipid metabolism and has been extensively studied for its role in neurodegenerative diseases. This study examines APOE genetic variability and its association with PD in an Egyptian cohort. Methods: A total of 891 participants, including 422 PD patients and 469 healthy controls, were included in this study. APOE genotyping was performed using Kompetitive Allele Specific PCR (KASP) to detect the rs429358 and rs7412 SNPs, which define the APOE alleles. APOE alleles were categorized based on the genotypes into ε2, ε3, and ε4 groups. Clinical assessments of PD patients included age at onset, disease severity (MDS-UPDRS), and demographic factors. Statistical analyses compared APOE distributions between PD and control groups and examined associations with clinical variables. Results: The ε3 allele was the most prevalent in the cohort (77.3%), aligning with global and African trends. The ε2 allele was observed in 11.4%, and the ε4 allele in 11.3%, with both frequencies being lower than reported African estimates. The ε3/ε3 genotype was predominant in both PD patients (72.51%) and controls (72.07%). The ε4/ε4 genotype was absent in PD cases and rare among controls (0.64%). No significant association was found between APOE genotypes and PD risk, age at onset, or disease severity. Conclusion: Our findings do not support a significant role for APOE in PD susceptibility or severity in Egyptians.

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