APOE genetic variability in an Egyptian cohort of PD

Eman M Khedr¹, Martina B William^{2

3}, Aliaa A Elhosseiny^{2

4}, Ali Shalash⁵, Gharib Fawi⁶, Mohamed H Yousef², Shaimaa El-Jaafary⁷, Hamin Lee⁸, Alina Jama⁸, Mohamed Koraym¹, Asmaa Helmy⁵, Yara Salah⁵, Peter George⁵, Nourelhoda A Haridy¹, Samir Nabhan², Agsha Atputhavadivel⁸, Sara Elfarrash⁹, Gaafar Ragab^{10

11}, Mohamed Tharwat Hegazy^{10

11}, Yasmin Elsaid¹², Asmaa S Gabr², Nourhan Shebl², Lobna Aly¹³, Nesreen Abdelwahhab¹², Tamer M Belal¹², Nehal A B Elsayed¹⁴, Mohamed El-Gamal¹⁵, Shimaa Elgamal¹⁶, Salma Ragab¹⁶, Jaidaa Mekky¹³, Henry Houlden⁸, Mie Rizig⁸, Mohamed Salama^{2

15}

Affiliations

¹ Department of Neurology, Faculty of Medicine, Assiut University, Assiut, Egypt.
² Institute of Global Health and Human Ecology, The American University in Cairo, Cairo, Egypt.
³ Department of Clinical Pharmacy, Faculty of Pharmacy, Assiut University, Assiut, Egypt.
⁴ Department of Pharmacology and Toxicology, Faculty of Pharmacy, The British University in Egypt, Cairo, Egypt.
⁵ Department of Neurology, Faculty of Medicine, Ain Shams University, Cairo, Egypt.
⁶ Department of Neurology, Faculty of Medicine, Sohag University, Sohag, Egypt.
⁷ Department of Neurology, Faculty of Medicine, Cairo University, Cairo, Egypt.
⁸ Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, UCL, London, United Kingdom.
⁹ Department of Medical Physiology, Faculty of Medicine, Mansoura University, Dakahleya, Egypt.
¹⁰ Department of Internal Medicine, Rheumatology and Clinical Immunology Unit, Faculty of Medicine, Cairo University, Cairo, Egypt.
¹¹ Faculty of Medicine, Newgiza University, Giza, Egypt.
¹² Department of Neurology, Faculty of Medicine, Mansoura University, Dakahleya, Egypt.
¹³ Department of Neurology, Faculty of Medicine, Alexandria University, Alexandria, Egypt.
¹⁴ Department of Neurology, Mansoura International Hospital, Dakahleya, Egypt.
¹⁵ Forensic Medicine and Clinical Toxicology Department, Faculty of Medicine, Mansoura University, Dakahleya, Egypt.
¹⁶ Department of Neuropsychiatry, Faculty of Medicine, Kafr El Sheikh University, Egypt.

PMID: 40486732
PMCID: PMC12141286
DOI: 10.3389/fnins.2025.1579968

APOE genetic variability in an Egyptian cohort of PD

Eman M Khedr et al. Front Neurosci. 2025.

. 2025 May 23:19:1579968.

doi: 10.3389/fnins.2025.1579968. eCollection 2025.

Authors

Affiliations

¹ Department of Neurology, Faculty of Medicine, Assiut University, Assiut, Egypt.
² Institute of Global Health and Human Ecology, The American University in Cairo, Cairo, Egypt.
³ Department of Clinical Pharmacy, Faculty of Pharmacy, Assiut University, Assiut, Egypt.
⁴ Department of Pharmacology and Toxicology, Faculty of Pharmacy, The British University in Egypt, Cairo, Egypt.
⁵ Department of Neurology, Faculty of Medicine, Ain Shams University, Cairo, Egypt.
⁶ Department of Neurology, Faculty of Medicine, Sohag University, Sohag, Egypt.
⁷ Department of Neurology, Faculty of Medicine, Cairo University, Cairo, Egypt.
⁸ Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, UCL, London, United Kingdom.
⁹ Department of Medical Physiology, Faculty of Medicine, Mansoura University, Dakahleya, Egypt.
¹⁰ Department of Internal Medicine, Rheumatology and Clinical Immunology Unit, Faculty of Medicine, Cairo University, Cairo, Egypt.
¹¹ Faculty of Medicine, Newgiza University, Giza, Egypt.
¹² Department of Neurology, Faculty of Medicine, Mansoura University, Dakahleya, Egypt.
¹³ Department of Neurology, Faculty of Medicine, Alexandria University, Alexandria, Egypt.
¹⁴ Department of Neurology, Mansoura International Hospital, Dakahleya, Egypt.
¹⁵ Forensic Medicine and Clinical Toxicology Department, Faculty of Medicine, Mansoura University, Dakahleya, Egypt.
¹⁶ Department of Neuropsychiatry, Faculty of Medicine, Kafr El Sheikh University, Egypt.

PMID: 40486732
PMCID: PMC12141286
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.

Keywords: APOE; Egyptian; KASP; Parkinson’s disease; genetics.

Copyright © 2025 Khedr, William, Elhosseiny, Shalash, Fawi, Yousef, El-Jaafary, Lee, Jama, Koraym, Helmy, Salah, George, Haridy, Nabhan, Atputhavadivel, Elfarrash, Ragab, Hegazy, Elsaid, Gabr, Shebl, Aly, Abdelwahhab, Belal, Elsayed, El-Gamal, Elgamal, Ragab, Mekky, Houlden, Rizig and Salama.

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Conflict of interest statement

The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.

Figures

**Figure 1**
APOE genotype distribution in Egyptians with PD and controls. Percentage distribution of APOE genotypes in Egyptian Parkinson’s Disease (PD) patients (Cases, N = 422) and ethnically matched healthy controls (Controls, N = 469). The stacked bars illustrate the relative frequencies of the ε2/ε2, ε2/ε3, ε2/ε4, ε3/ε3, ε3/ε4, and ε4/ε4 genotypes within each group. Absolute counts for each genotype are indicated in the legend for the cases and control groups.

See this image and copyright information in PMC

References

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APOE genetic variability in an Egyptian cohort of PD

Affiliations

APOE genetic variability in an Egyptian cohort of PD

Authors

Affiliations

Abstract

Conflict of interest statement

Figures

References

LinkOut - more resources

Full Text Sources

Research Materials

Miscellaneous