INVESTIGATE THE VARIETY OF GENES INVOLVED IN ALZHEIMER’S DISEASE IN THE POPULATION OF NORTH WEST OF IRAN
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Keywords
Alzheimer’s disease, Genetic variants, whole exome sequencing, APP, presenilin
Abstract
Background: Alzheimer's disease (AD) is strongly influenced by genetic factors, particularly the genes Amyloid precursor protein (APP), presenilin1 (PSEN1), and presenilin2 (PSEN2), which are considered significant causative genes for AD and are responsible for 1% to 5% of cases of the disease. Over time, various evolutionary forces can lead to changes in allele frequencies, and these frequencies can be used to infer past evolutionary events. This particular study aimed to investigate the relationship between single nucleotide polymorphisms (SNPs) of the APP, PSEN1, and PSEN2 genes and Alzheimer's disease within the population of northwestern Iran.
Methods: The researchers sequenced the nuclear genomes of 54 healthy individuals using a technique called whole exome sequencing (WES). They then calculated the frequency of gene variants associated with Alzheimer's disease in these individuals. They compared it with the frequency of SNVs (single nucleotide variants) in other regions of Iran using the Iranome database (www.iranome.ir) and populations outside of Iran using the OMIM project. Additionally, the researchers predicted the pathogenicity of these variants.
Results and Conclusion: The study found that some of the studied variants of the APP gene were not detected in healthy individuals, while two variants were observed at low frequencies. The PSEN1 and PSEN2 variants were found to be present in the population under study. These results were consistent with the findings of the Iranome and OMIM projects. Based on these results, the study suggests the importance of early detection of individuals with memory decline in the susceptible population and raising public awareness about preventive measures for Alzheimer's disease.
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This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.
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Ayam AL anisi
Animal Biology Department, Faculty of Natural Sciences, University of Tabriz, Tabriz, Iran.
Morteza Jabbarpour Bonyadi
Center of Excellence for Biodiversity, Faculty of Natural Sciences, University of Tabriz, Tabriz, Iran
Seyed Abbas Rafat
Department of Animal Science, University of Tabriz, Tabriz, Iran.