APOE genetic variability in an Egyptian cohort of PD
BackgroundThe 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.Me...
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2025-05-01
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| author | Eman M. Khedr Martina B. William Martina B. William Aliaa A. Elhosseiny 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 Gaafar Ragab Mohamed Tharwat Hegazy 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 Mohamed Salama |
| author_facet | Eman M. Khedr Martina B. William Martina B. William Aliaa A. Elhosseiny 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 Gaafar Ragab Mohamed Tharwat Hegazy 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 Mohamed Salama |
| author_sort | Eman M. Khedr |
| collection | DOAJ |
| description | BackgroundThe 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.MethodsA 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.ResultsThe 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.ConclusionOur findings do not support a significant role for APOE in PD susceptibility or severity in Egyptians. |
| format | Article |
| id | doaj-art-c06a9ab69f4d4de9bbd4b97bfe2ac9ee |
| institution | Kabale University |
| issn | 1662-453X |
| language | English |
| publishDate | 2025-05-01 |
| publisher | Frontiers Media S.A. |
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| series | Frontiers in Neuroscience |
| spelling | doaj-art-c06a9ab69f4d4de9bbd4b97bfe2ac9ee2025-08-20T03:53:56ZengFrontiers Media S.A.Frontiers in Neuroscience1662-453X2025-05-011910.3389/fnins.2025.15799681579968APOE genetic variability in an Egyptian cohort of PDEman M. Khedr0Martina B. William1Martina B. William2Aliaa A. Elhosseiny3Aliaa A. Elhosseiny4Ali Shalash5Gharib Fawi6Mohamed H. Yousef7Shaimaa El-Jaafary8Hamin Lee9Alina Jama10Mohamed Koraym11Asmaa Helmy12Yara Salah13Peter George14Nourelhoda A. Haridy15Samir Nabhan16Agsha Atputhavadivel17Sara Elfarrash18Gaafar Ragab19Gaafar Ragab20Mohamed Tharwat Hegazy21Mohamed Tharwat Hegazy22Yasmin Elsaid23Asmaa S. Gabr24Nourhan Shebl25Lobna Aly26Nesreen Abdelwahhab27Tamer M. Belal28Nehal A. B. Elsayed29Mohamed El-Gamal30Shimaa Elgamal31Salma Ragab32Jaidaa Mekky33Henry Houlden34Mie Rizig35Mohamed Salama36Mohamed Salama37Department of Neurology, Faculty of Medicine, Assiut University, Assiut, EgyptInstitute of Global Health and Human Ecology, The American University in Cairo, Cairo, EgyptDepartment of Clinical Pharmacy, Faculty of Pharmacy, Assiut University, Assiut, EgyptInstitute of Global Health and Human Ecology, The American University in Cairo, Cairo, EgyptDepartment of Pharmacology and Toxicology, Faculty of Pharmacy, The British University in Egypt, Cairo, EgyptDepartment of Neurology, Faculty of Medicine, Ain Shams University, Cairo, EgyptDepartment of Neurology, Faculty of Medicine, Sohag University, Sohag, EgyptInstitute of Global Health and Human Ecology, The American University in Cairo, Cairo, EgyptDepartment of Neurology, Faculty of Medicine, Cairo University, Cairo, EgyptDepartment of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, UCL, London, United KingdomDepartment of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, UCL, London, United KingdomDepartment of Neurology, Faculty of Medicine, Assiut University, Assiut, EgyptDepartment of Neurology, Faculty of Medicine, Ain Shams University, Cairo, EgyptDepartment of Neurology, Faculty of Medicine, Ain Shams University, Cairo, EgyptDepartment of Neurology, Faculty of Medicine, Ain Shams University, Cairo, EgyptDepartment of Neurology, Faculty of Medicine, Assiut University, Assiut, EgyptInstitute of Global Health and Human Ecology, The American University in Cairo, Cairo, EgyptDepartment of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, UCL, London, United KingdomDepartment of Medical Physiology, Faculty of Medicine, Mansoura University, Dakahleya, Egypt0Department of Internal Medicine, Rheumatology and Clinical Immunology Unit, Faculty of Medicine, Cairo University, Cairo, Egypt1Faculty of Medicine, Newgiza University, Giza, Egypt0Department of Internal Medicine, Rheumatology and Clinical Immunology Unit, Faculty of Medicine, Cairo University, Cairo, Egypt1Faculty of Medicine, Newgiza University, Giza, Egypt2Department of Neurology, Faculty of Medicine, Mansoura University, Dakahleya, EgyptInstitute of Global Health and Human Ecology, The American University in Cairo, Cairo, EgyptInstitute of Global Health and Human Ecology, The American University in Cairo, Cairo, Egypt3Department of Neurology, Faculty of Medicine, Alexandria University, Alexandria, Egypt2Department of Neurology, Faculty of Medicine, Mansoura University, Dakahleya, Egypt2Department of Neurology, Faculty of Medicine, Mansoura University, Dakahleya, Egypt4Department of Neurology, Mansoura International Hospital, Dakahleya, Egypt5Forensic Medicine and Clinical Toxicology Department, Faculty of Medicine, Mansoura University, Dakahleya, Egypt6Department of Neuropsychiatry, Faculty of Medicine, Kafr El Sheikh University, Egypt6Department of Neuropsychiatry, Faculty of Medicine, Kafr El Sheikh University, Egypt3Department of Neurology, Faculty of Medicine, Alexandria University, Alexandria, EgyptDepartment of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, UCL, London, United KingdomDepartment of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, UCL, London, United KingdomInstitute of Global Health and Human Ecology, The American University in Cairo, Cairo, Egypt5Forensic Medicine and Clinical Toxicology Department, Faculty of Medicine, Mansoura University, Dakahleya, EgyptBackgroundThe 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.MethodsA 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.ResultsThe 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.ConclusionOur findings do not support a significant role for APOE in PD susceptibility or severity in Egyptians.https://www.frontiersin.org/articles/10.3389/fnins.2025.1579968/fullParkinson’s diseasegeneticsAPOEKASPEgyptian |
| spellingShingle | Eman M. Khedr Martina B. William Martina B. William Aliaa A. Elhosseiny 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 Gaafar Ragab Mohamed Tharwat Hegazy 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 Mohamed Salama APOE genetic variability in an Egyptian cohort of PD Frontiers in Neuroscience Parkinson’s disease genetics APOE KASP Egyptian |
| title | APOE genetic variability in an Egyptian cohort of PD |
| title_full | APOE genetic variability in an Egyptian cohort of PD |
| title_fullStr | APOE genetic variability in an Egyptian cohort of PD |
| title_full_unstemmed | APOE genetic variability in an Egyptian cohort of PD |
| title_short | APOE genetic variability in an Egyptian cohort of PD |
| title_sort | apoe genetic variability in an egyptian cohort of pd |
| topic | Parkinson’s disease genetics APOE KASP Egyptian |
| url | https://www.frontiersin.org/articles/10.3389/fnins.2025.1579968/full |
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