埃及帕金森病队列中的APOE基因变异性

APOE genetic variability in an Egyptian cohort of PD.

作者信息

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

机构信息

Department of Neurology, Faculty of Medicine, Assiut University, Assiut, Egypt.

Institute of Global Health and Human Ecology, The American University in Cairo, Cairo, Egypt.

出版信息

Front Neurosci. 2025 May 23;19:1579968. doi: 10.3389/fnins.2025.1579968. eCollection 2025.

DOI:10.3389/fnins.2025.1579968

PMID:40486732

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12141286/

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.

摘要

背景

载脂蛋白E（APOE）基因包含三个等位基因（ε2、ε3、ε4），是脂质代谢的关键参与者，其在神经退行性疾病中的作用已得到广泛研究。本研究调查了埃及人群中APOE基因变异性及其与帕金森病（PD）的关联。

方法

本研究共纳入891名参与者，其中包括422名PD患者和469名健康对照。使用竞争性等位基因特异性PCR（KASP）进行APOE基因分型，以检测定义APOE等位基因的rs429358和rs7412单核苷酸多态性（SNP）。根据基因型将APOE等位基因分为ε2、ε3和ε4组。PD患者的临床评估包括发病年龄、疾病严重程度（MDS-UPDRS）和人口统计学因素。统计分析比较了PD组和对照组之间的APOE分布，并检查了与临床变量的关联。

结果

ε3等位基因在该队列中最为普遍（77.3%），与全球和非洲的趋势一致。观察到ε2等位基因的频率为11.4%，ε4等位基因的频率为11.3%，两者频率均低于报道的非洲人群估计值。ε3/ε3基因型在PD患者（72.51%）和对照组（72.07%）中均占主导地位。PD病例中未发现ε4/ε4基因型，对照组中也很少见（0.64%）。未发现APOE基因型与PD风险、发病年龄或疾病严重程度之间存在显著关联。