# APOE genetic variability in an Egyptian cohort of PD

**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, Salma Ragab, Jaidaa Mekky, Henry Houlden, Mie Rizig, Mohamed Salama

PMC · DOI: 10.3389/fnins.2025.1579968 · Frontiers in Neuroscience · 2025-05-23

## TL;DR

This study investigates the APOE gene's role in Parkinson's disease among Egyptians and finds no significant association.

## Contribution

The study provides new insights into APOE genetic variability and PD in an Egyptian population.

## Key findings

- The ε3 allele was the most common in the Egyptian cohort (77.3%).
- No significant association was found between APOE genotypes and PD risk or severity.
- The ε4/ε4 genotype was absent in PD cases and rare in controls.

## Abstract

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.

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.

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.

Our findings do not support a significant role for APOE in PD susceptibility or severity in Egyptians.

## Linked entities

- **Genes:** APOE (apolipoprotein E) [NCBI Gene 348]
- **Diseases:** Parkinson's disease (MONDO:0005180)

## Full-text entities

- **Genes:** APOE (apolipoprotein E) [NCBI Gene 348] {aka AD2, APO-E, ApoE4, LDLCQ5, LPG}
- **Diseases:** neurodegenerative diseases (MESH:D019636), PD (MESH:D010300)
- **Chemicals:** lipid (MESH:D008055)
- **Species:** Homo sapiens (human, species) [taxon 9606]
- **Mutations:** rs429358, rs7412

## Full text

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## Figures

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## References

50 references — full list in the complete paper: https://tomesphere.com/paper/PMC12141286/full.md

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Source: https://tomesphere.com/paper/PMC12141286