Please use this identifier to cite or link to this item: http://hdl.handle.net/20.500.12188/16365
Title: Идентификација и евалуација на ризик и предикторни фактори за развој на алцхајмерова болест
Other Titles: Identification and evaluation of risk and predictive factors for Аlzheimer’s disease
Authors: Новотни, Габриела
Keywords: Alzheimer’s disease, APOEε4 allele, biomarkers, modifiable risk factors
Issue Date: 2019
Publisher: Медицински факултет, УКИМ, Скопје
Source: Новотни, Габриела (2019). Идентификација и евалуација на ризик и предикторни фактори за развој на алцхајмерова болест. Докторска дисертација. Скопје: Медицински факултет, УКИМ.
Abstract: Background: Alzheimer’s disease (AD), the most common cause for dementia, is evolving to become a threatening epidemy of the 21st century. In 2015, 47 million people were suffering from dementia worldwide, with predictions that this number would at least triple by the year of 2050, estimating that there will be around 131 million living with dementia, mostly AD. A disease that was in details described by Alois Alzheimer in 1906 and was considered to be a rare disease at that time, is about to become a global medical and social problem. Even though the exact etiology and pathogenesis of Alzheimer’s disease is still unrevealed challenge for the neuroscience, it is well known that old age is a major risk factor for AD. Only 21% of the predicted number of AD patients in Macedonia have been diagnosed and treated, which means that almost 80% are underdiagnosed or misdiagnosed. Apolipoprotein E gene (APOE) is recognized as the strongest genetic risk factor for sporadic AD. Whether and when Alzheimer’s disease develops, depends on very complex interaction between genetic and modifiable risk factors. Aim: This study aims to evaluate risk and predictive factors for Alzheimer’s disease. As family history for AD increases the risk for later development of AD, both through genetic and non-genetic factors, patients’ adult children, as a group at risk, are analyzed for the presence of the identified predictive AD factors. The potential role of IL-6, IL-1b, TNF-α, tau and VCAM-1 as plasma biomarkers for AD is also evaluated. Materials and Methods: Study group of total 289 participants (144 AD patients diagnosed in the dementia outpatient clinic at the University Clinic of Neurology-Skopje and dementia center at the University Clinic of Psychiatry-Skopje within the period from 2016 to 2018, 55 adult patient’s children and 90 healthy controls) were evaluated. APOE genotyping was performed using APOE haplotype specific sequence specific-primer (SSP)-PCR (Polymerase Chain Reaction) methodology. Plasma concentration of IL-6, IL-1b, TNF-α, tau and VCAM-1 was measured using ELISA - Magnetic Luminex Assay. Non-standardized questionnaire was used to obtain information about demographics, lifestyle and modifiable risk factors that could influence disease onset and phenotype. Written informed consent was obtained from all subjects included in the study group and from the control group. Statistical analysis in STATISTICA 10 and SPSS 20.0 were done. Results/Conclusion: Statistically significant association was found between the presence of APOEε4 allele and AD. The presence of APOEε4 allele increases the risk for developing AD in 3-fold manner. The average age of disease onset of 68,4 years in our study, could be considered earlier than the average age of AD onset worldwide. Statistically significant predictors for Alzheimer’s disease, according to our study are: APOEε4 allele, male gender, living in rural area, education lower than 9 years, smoking, traumatic head injury, hypertension, dyslipidemia, midlife depression and stress and family history for dementia. Physical activity and social engaging activities (hobbies, cognitive stimulating activities) are protective factors concerning AD. None of the potential plasma biomarkers for AD was confirmed to have this role in the study. The results from the study, obtained by identifying and analyzing the dominant risk and predictive factors for Alzheimer’s disease, that have the original signature of the population and geographic region where the study is performed, could serve as scientifically based starting point for creating predictive tools, screening tools for identification of individuals at risk and for developing preventive strategies.
Description: Докторска дисертација одбранета во 2019 година на Медицинскиот факултет во Скопје, под менторство на проф. д–р Алексеј Дума.
URI: http://hdl.handle.net/20.500.12188/16365
Appears in Collections:UKIM 02: Dissertations from the Doctoral School / Дисертации од Докторската школа

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