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Missing apolipoprotein E ɛ4 allele associated with nonamnestic Alzheimer’s disease in a Tunisian population

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Abstract

In this study, we investigate the impact of apolipoprotein E epsilon 4 (APOE ɛ4) as a major risk factor of Alzheimer’s disease (AD), based on the clinical presentation of the disease in our population on the one hand, and comparison of the results with the findings from the literature on the other hand. Our study covered a population of 144 patients versus 90 healthy controls matched with each other in terms of age, gender, age of onset, etc. All patients underwent neurological examination, comprehensive neuropsychological assessment and brain magnetic resonance imaging. Controls were selected based on the neurological examination and the Arabic version of the mini-mental state examination (MMSE). Patients were classified as probable typical amnestic AD and atypical nonamnestic AD if the patient had logopenic variant primary aphasia, posterior cortical atrophy, behavioural or dysexecutive variants, corticobasal syndrome, nonfluent and semantic variants of primary progressive aphasia associated to biological diagnosis for AB42, Tau and Ptau biomarks in the cerebrospinal fluid. Genotyping was performed using the polymerace chain reaction restriction fragment length polymorphism (PCR-RFLP) method. The study of the allelic frequency of APOE in cases and controls show that APOE ɛ4 is associated with an increased risk for AD (P = 0.002). We observed that the distribution of APOE ɛ4 within the AD group differs depending on the phenotype. Nonamnestic AD was more common in patients not carrying APOE ɛ4 (APOE ɛ4 (−)) compared to carriers of homozygous or heterozygous APOE ɛ4 (APOE ɛ4 (+)) (P = 0.038). In addition to its known effect as a major risk factor, we found that patients with AD are APOE ɛ4 negative, they show cognitive decline in nonmemory domains (language, behaviour, attention, executive and visuospatial functions).

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Acknowledgement

This study was sponsored by The Tunisian Ministry of Public Health, Tunis El Manar university, Faculty of Medicine, Biochemistry and Molecular Biology Laboratory, Children’s Hospital. Tunis.

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Authors and Affiliations

  1. Department of Neurology, Charles Nicolle Hospital, Tunis, Tunisia

    Saloua Fray & Afef Achouri-Rassas

  2. Biochemistry and Molecular Biology Laboratory, Children’s Hospital, Bab Saadoun, 1029, Tunis, Tunisia

    Afef Achouri-Rassas & Taieb Messaoud

  3. Faculty of Medicine of Tunis, Tunis El Manar University, 15 Rue Djebel Lakhdhar, La Rabta., 1007, Tunis, Tunisia

    Saloua Fray, Afef Achouri-Rassas & Samir Belal

Authors
  1. Saloua Fray
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  2. Afef Achouri-Rassas
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  3. Samir Belal
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  4. Taieb Messaoud
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Contributions

SF: study concept and design, acquisition of data, analysis and interpretation; AAR: genetic analysis; SB: study supervision; TM: study supervision.

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Correspondence to Saloua Fray.

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Corresponding editor: B. K. Thelma

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Fray, S., Achouri-Rassas, A., Belal, S. et al. Missing apolipoprotein E ɛ4 allele associated with nonamnestic Alzheimer’s disease in a Tunisian population. J Genet 101, 41 (2022). https://doi.org/10.1007/s12041-022-01384-9

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  • DOI: https://doi.org/10.1007/s12041-022-01384-9

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