INVESTIGATION OF GENETIC VARIANTS IN ALZHEIMER'S DISEASE USING WHOLE-EXOME SEQUENCING AND BIOINFORMATICS ANALYSIS IN THE POPULATION OF AZERI TURKISH FROM NORTHWESTERN IRAN
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Keywords
Alzheimer’s disease, Genetic variants, whole exome sequencing, Single nucleotide variants
Abstract
frequencies, and how allele frequencies are expected to change over time. Knowledge of population genetics and its changes in medicine can help preventive measures against the disease; the purpose of this research is to investigate the different variants of three genes, EphA4, TOMM40, and TREM2, that play a role in Alzheimer's disease in the population of northwest Iran.
Methods: whole exome sequencing (WES) is used for the detection sequence of 54 healthy people in Azeri Turkish from Northwestern Iran, and the frequency of the gene variants causing Alzheimer's disease was calculated in these people. Bio-informative tools such as Iranome (www.iranome.ir) and Omim were applied to compare the frequency of SNVs in the populations of other regions. Finally, variants pathogenicity was also predicted.
Result and conclusion: Results of EphA4, TOMM40, and TREM2 variants showed the presence of these variants in our studied population; also, most of the findings of the frequency of SNVs of this gene were consistent with the frequency available on the Iranome website, according to these results in the population of northwest Iran. There is a genetic risk of the disease, so it is necessary to prevent Alzheimer's in old age by taking preventive measures and controlling environmental factors.
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Mohammed M. Barrak
Animal Biology Department, Faculty of Natural Sciences, University of Tabriz, Tabriz, Iran.
Mortaza Bonyadi
Center of Excellence for Biodiversity, Faculty of Natural Sciences, University of Tabriz, Tabriz, Iran
Abbas Rafat
Department of Animal Science, University of Tabriz, Tabriz, Iran.