Elham Mehdizadeh
1, Mohammad Khalaj-Kondori
2, Zeinab Shaghaghi-Tarakdari
3, Saeed Sadigh-Eteghad
1, Mahnaz Talebi
1*, Sasan Andalib
4,5,6,7,8,9*1 Neurosciences Research Center (NSRC), Tabriz University of Medical Sciences, Tabriz, Iran
2 Department of Biology, Faculty of Natural Sciences, University of Tabriz, Tabriz, Iran
3 Department of Genetics, Animal Biology Group, Faculty of Natural Sciences, University of Tabriz, Tabriz, Iran
4 Neuroscience Research Center, Poursina Hospital, Guilan University of Medical Sciences, Rasht, Iran
5 Department of Neurosurgery, Poursina Hospital, School of Medicine, Guilan University of Medical Sciences, Rasht, Iran
6 Department of Nuclear Medicine, Odense University Hospital, Odense, Denmark
7 Center for Applied Neuroscience, Brain Research - Interdisciplinary Guided Excellence, BRIDGE, Department of Clinical Research, Faculty of Health Sciences, University of Southern Denmark, Odense, Denmark
8 Department of Clinical Research, Faculty of Health Sciences, University of Southern Denmark, Odense, Denmark
9 Department of Psychiatry, Psychiatry in the Region of Southern Denmark, Odense, Denmark
Abstract
Introduction: Alzheimer’s disease (AD), which is a progressive neurodegenerative disorder, causes structural and functional brain disruption. MS4A6A, TREM2, and CD33 gene polymorphisms loci have been found to be associated with the pathobiology of late-onset AD (LOAD). In the present study, we tested the hypothesis of association of LOAD with rs983392, rs75932628, and rs3865444 polymorphisms in MS4A6A, TREM2, CD33 genes, respectively.
Methods: In the present study, 113 LOAD patients and 100 healthy unrelated age- and gender-matched controls were selected. DNA was extracted from blood samples by the salting-out method and the genotyping was performed by RFLP-PCR. Electrophoresis was carried out on agarose gel. Sequencing was thereafter utilized for the confirmation of the results.
Results: Only CD33 rs3865444 polymorphism revealed a significant difference in the genotypic frequencies of GG (P = 0.001) and GT (P = 0.001), and allelic frequencies of G (P = 0.033) and T (P = 0.03) between LOAD patients and controls.
Conclusion: The evidence from the present study suggests that T allele of CD33 rs3865444 polymorphism is associated with LOAD in the studied Iranian population.