Investigation of the relationship between ACAN gene VNTR polymorphism and Alzheimer's disease in turkish population

Alzheimer's disease is the most common type of dementia and is a multifactorial disease that causes neurons to degenerate. Alzheimer's disease, which increasingly affects a large part of the world's population, progresses insidiously. The pathology of the disease includes amyloid plaques and neurofibrillary tangles. Genetically, mutations in APP, PSEN1, PSEN2 genes and APOE variants play a role in the emergence of the disease. There is no definitive diagnosis and treatment of the disease. A definitive diagnosis can be made as a result of the examination of the brain after death. The drugs used in the treatment of Alzheimer's disease are only intended to alleviate the symptoms of the disease. Currently used biomarkers are not sufficient for diagnosis and treatment. Comprehensive investigation of the factors involved in the pathophysiology of the disease is of great importance for a better understanding of the disease and for a healthier diagnosis and treatment. In our study, the relationship between the VNTR polymorphism in the ACAN gene and Alzheimer's disease was investigated. The VNTR polymorphism in the ACAN gene has often been associated with disc degenerations. However, the aggrecan protein encoded by the ACAN gene participates in the structure of perineuronal networks (PN) in the brain. Studies show that PNs prevent amyloid plaques and neurofibrillary tangles, which are involved in the pathogenesis of Alzheimer's, from damaging neurons. In our study, blood samples taken from 102 Alzheimer's disease and 101 healthy individuals were examined. A significant correlation was found between Alzheimer's disease and VNTR polymorphism (p=0.000). The 30R and 31R alleles in the patient group, and the 33R alleles in the control group were the most repeated alleles. At the same time, shorter alleles such as 13R, 21R, 24R repeat more in the patient group than in the control group. In our study, the relationship between Alzheimer's disease and the ACAN VNTR polymorphism in the ACAN gene was investigated for the first time. In order to understand the relationship more clearly, it is necessary to conduct studies in different populations and with larger sample sizes.