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Research Article
Nesrine Ben Salem
high Institute of Biotechnology , University of Monastir,Monastir , Tunisia
Corresponding Author
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Background: Alzheimer’s disease (AD) is the most common neurodegenerative disorder in humans and presents a major health problem throughout the world. The etiology of AD is complex, and many factors are implicated, including mitochondria. Mitochondrial alteration has been proposed as a possible cause of AD Therefore, several studies have focused on finding an association between inherited mitochondrial DNA variants and AD onset.
Methods: In this study, we looked, for the first time, for a potential association between mitochondrial haplogroups or polymorphisms and AD in the Tunisian population. We also evaluated the distribution of the major genetic risk factor for AD, the apolipoprotein E epsilon 4 (APOE ε4), in this population. In total, 159 single-nucleotide polymorphisms (SNPs) of mitochondrial DNA haplogroups were genotyped in 254 individuals (58 patients and 196 controls). An additional genotyping of APOE ε4 was performed.
Results: No significant association between mitochondrial haplogroups and AD was found. However, two individual SNPs, A5656G (p = 0.03821, OR = 10.46) and A13759G (p = 0.03719, OR = 10.78), showed a significant association with AD. APOE 4 was confirmed as a risk factor for AD (p = 0.000014).
Conclusion: Our findings may confirm the absence of a relation between mitochondrial haplogroups and AD and support the possible involvement of some inherited variants in the pathogenicity of AD.
Keywords
Alzheimer’s disease (AD), mtDNA haplogroups, Tunisian population, mitochondrial SNPs, genetic diversity
Figure 1
Figure 2
This is a list of supplementary files associated with this preprint. Click to download.
- SupportingInformations1.xlsx
Table S1: a list of 159 mitochondrial SNPs genotyped using the Axiom 815K Spanish Biobank Array (Thermo Fisher).
- SupportingInformations2.xlsx
Table S2: a general description of participants: age, gender and statue (control or patient) also illustrates observed mitochondrial SNPs for each individual and the corresponding haplogroup according to array results.
- SupportingInformations3.xlsx
Table S3: polymorphisms' results obtained from both techniques: array and sequencing for each individual, with corresponding mitochondrial haplogroup.
- phylogynetictreeannexe.pdf
phylogynetic tree annexe
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This preprint is under consideration at Molecular Biology Reports. A preprint is a preliminary version of a manuscript that has not completed peer review at a journal. Research Square does not conduct peer review prior to posting preprints. The posting of a preprint on this server should not be interpreted as an endorsement of its validity or suitability for dissemination as established information or for guiding clinical practice.
Learn more about In Review
Research Article
Nesrine Ben Salem
high Institute of Biotechnology , University of Monastir,Monastir , Tunisia
Corresponding Author
Badges
Prescreen
This manuscript passed our Prescreen assessment
Complete author information
Appropriate declaration statements
Potential risks to human health
Prescreen
Peer Review Timeline
CURRENT STATUS: Under Review
Version 1
Posted 02 Nov, 2021
No community comments so far
Editorial decision: Minor Revisions Needed
On 01 Nov, 2021
First submitted
On 11 Oct, 2021
Metrics
Comments: 0
PDF Downloads: ...
HTML Views: ...
License:
This work is licensed under a CC BY 4.0 License. Read Full License
Background: Alzheimer’s disease (AD) is the most common neurodegenerative disorder in humans and presents a major health problem throughout the world. The etiology of AD is complex, and many factors are implicated, including mitochondria. Mitochondrial alteration has been proposed as a possible cause of AD Therefore, several studies have focused on finding an association between inherited mitochondrial DNA variants and AD onset.
Methods: In this study, we looked, for the first time, for a potential association between mitochondrial haplogroups or polymorphisms and AD in the Tunisian population. We also evaluated the distribution of the major genetic risk factor for AD, the apolipoprotein E epsilon 4 (APOE ε4), in this population. In total, 159 single-nucleotide polymorphisms (SNPs) of mitochondrial DNA haplogroups were genotyped in 254 individuals (58 patients and 196 controls). An additional genotyping of APOE ε4 was performed.
Results: No significant association between mitochondrial haplogroups and AD was found. However, two individual SNPs, A5656G (p = 0.03821, OR = 10.46) and A13759G (p = 0.03719, OR = 10.78), showed a significant association with AD. APOE 4 was confirmed as a risk factor for AD (p = 0.000014).
Conclusion: Our findings may confirm the absence of a relation between mitochondrial haplogroups and AD and support the possible involvement of some inherited variants in the pathogenicity of AD.
Figure 1
Figure 2
This is a list of supplementary files associated with this preprint. Click to download.
- SupportingInformations1.xlsx
Table S1: a list of 159 mitochondrial SNPs genotyped using the Axiom 815K Spanish Biobank Array (Thermo Fisher).
- SupportingInformations2.xlsx
Table S2: a general description of participants: age, gender and statue (control or patient) also illustrates observed mitochondrial SNPs for each individual and the corresponding haplogroup according to array results.
- SupportingInformations3.xlsx
Table S3: polymorphisms' results obtained from both techniques: array and sequencing for each individual, with corresponding mitochondrial haplogroup.
- phylogynetictreeannexe.pdf
phylogynetic tree annexe
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