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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.

Association of MS4A6A, CD33, and TREM2 gene polymorphisms with the late-onset Alzheimer’s disease