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APOE‐associated disease risk and sex‐specific effects in Egyptian Alzheimer's disease: an exploratory study

Research Abstract

INTRODUCTION

The apolipoprotein E (APOE) gene is the strongest known genetic risk factor for late-onset Alzheimer's disease (AD), particularly the ε4 allele. Evidence suggests that women carrying at least one APOE ε4 allele have a higher risk of developing AD compared to men. However, data addressing genetic risk and sex-specific effects in Middle Eastern and North African populations remain limited.

METHODS

To address this gap, we evaluated APOE allele frequencies, their association with AD risk, and their contribution to sex-specific variability in a cohort of 63 clinically diagnosed AD patients and 201 cognitively healthy controls recruited across Egypt.

RESULTS

The APOE ε3 allele was the most prevalent in both AD cases (83.3%) and controls (83.6%). The ε4 allele was more frequent among AD patients (12.7%) than controls (8.0%) (adjusted odds ratio [OR] = 1.09, 95% confidence interval [CI]: 0.46 to 2.49, p = 0.85), while the ε2 allele was less frequent in AD patients (4.0%) compared to controls (8.5%) (adjusted OR = 0.82, 95% CI: 0.24 to 2.36, p = 0.73). However, neither association reached statistical significance after Benjamini–Hochberg false discovery rate correction. Sex-stratified analyses revealed no significant sex-specific effects of APOE alleles.

CONCLUSION

This pilot study provides the first characterization of APOE genotype and allele frequencies in Egyptians with clinically confirmed AD. No statistically significant association was observed between APOE status and AD risk in either males or females. Larger, geographically representative studies are needed to further elucidate the role of APOE in AD susceptibility within the Egyptian population and to explore potential alternative genetic or environmental contributors.

Research Authors
Mai Othman, Eman Khedr, Shimaa Heikal, Mohamed H Yousef, Gharib Fawi, Sara El Farrash, Samer Salama, Muhammad Abdelshafi, Nesma G Elsheikh, Heba M Tawfik, Hany I Hassanin, Nourelhoda A Haridy, Gellan K Ahmed, Noha Abo Elftoh, Amna Ibrahim, Ahmed Qayaty, E
Research Date
Research Department
Department of Neurology and Psychiatry
Research Journal
Alzheimer's & Dementia: Translational Research & Clinical Interventions
Research Member
Nourelhoda Ahmed Ahmed Haridy
Research Pages
e70268
Research Publisher
Wiley
Research Vol
12
Research Website
https://alz-journals.onlinelibrary.wiley.com/doi/full/10.1002/trc2.70268
Research Year
2026

Physical disability, cognition, and depression as determinants of quality of life in multiple sclerosis: a cross-sectional study

Research Abstract

Background:

Quality of life (QoL) in multiple sclerosis (MS) is multifactorial, reflecting the combined effects of physical disability, cognitive impairment, and depressive symptoms. While physical disability is a key determinant, the independent contributions of cognition and depression to QoL remain incompletely defined. This study aimed to assess the frequency of cognitive impairment and depressive symptoms in MS and examine their independent impact on QoL beyond physical disability.

 

Methods:

This cross-sectional study included 242 patients with clinically definite MS who were evaluated using standardized clinical and neuropsychological measures. Physical disability was assessed by the Expanded Disability Status Scale (EDSS), motor function by the Nine-Hole Peg Test (9-HPT) and 25-Foot Walk Test (25-FWT), cognition by the Symbol Digit Modalities Test (SDMT), California Verbal Learning Test (CVLT), and Brief Visuospatial Memory Test-Revised (BVMT-R), depression by the Hamilton Depression Rating Scale (HAM-D), and QoL by the MS Impact Scale (MSIS-29). Hierarchical multiple regression was performed to identify independent predictors of total QoL. In this study, cognitive impairment was defined as performance ≥1.5 standard deviations below normative means on at least one cognitive test, and depressive symptoms as HAM-D ≥ 8.

 

Results:

Cognitive impairment was present in 47.9% and depressive symptoms in 61.3% of the cohort. EDSS showed the strongest correlation with MSIS-29 total score (r = 0.698, p < 0.001), followed by HAM-D (r = 0.438, p < 0.001) and BVMT-R (r = −0.340, p < 0.001). In regression analysis, physical disability (β = 0.65, p < 0.001), depression (β = 0.23, p < 0.001), and processing speed (β = −0.12, p = 0.009) were independent predictors of QoL, explaining 64% of its variance.

 

Conclusion:

Although physical disability remains the dominant determinant of QoL in MS, depressive symptoms and cognitive slowing contribute independent and clinically meaningful effects. Routine screening and early intervention for mood and cognitive disturbances are essential to improve overall well-being in patients with MS.

Research Authors
Eman M Khedr, Ahmed A Karim, Mohammed Y Ezzeldin, Ahmed Abdelwarith, Gellan K Ahmed, Nourelhoda A Haridy
Research Date
Research Department
Department of Neurology and Psychiatry
Research Journal
Frontiers in Neurology
Research Member
Nourelhoda Ahmed Ahmed Haridy
Research Pages
e70268
Research Publisher
Frontiers Media SA
Research Vol
17
Research Website
https://www.frontiersin.org/journals/neurology/articles/10.3389/fneur.2026.1776488/full
Research Year
2026

Expression pattern of heterogeneous nuclear ribonucleoprotein H1 and heterogeneous nuclear ribonucleoprotein K in Myeloproliferative neoplasms

Research Authors
Helbawi, Fatma M.; Elgammal, Sahar A.; Mahboub, Yomna R.; Elminshawy, Alaa A.; Naguib, Radwa H.; Rayan, Aml A.
Research Date
Research Department
Department of Clinical Pathology
Research Journal
The egyptian journal of haematology
Research Member
Aalaa Elminshawy
Research Year
2026

MRI Characterization of Sacroiliac and Spinal Involvement in Spondyloarthritis: Prevalence, Distribution, and Associations with Inter-Rater Reliability

Research Authors
Doaa Kamal Hassan Salah Elesseily, M Abdel-Tawab, Zahraa I. Selim, Rania M. Gamal, Hayam Yahia Hamed
Research Date
Research Department
Department of Rheumatology ,Rehabilitation & physical medicine
Research Journal
International Journal of Special Education
Research Member
Hassan Salah Eldin Hassan Elesseily
Research Year
2026
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