Investigating the Frequency and Association of BACE1-AS rs147542312C/T with Alzheimer's Disease in Northwest of Iran

Background and Aims: Alzheimer’s disease is the most common neurodegenerative disorder worldwide. The long noncoding RNA, BACE1-AS, acts as a regulator of BACE1 transcript which its product involves in Alzheimer’s disease pathobiology. We investigated the frequency and association of rs147542312C/T of BACE1-AS gene with Alzheimer’s disease in northwest of Iran.

Place and Duration of Study: Department of Genetics and Animal Biology (Faculty of Natural Science, University of Tabriz) and Neurosciences Research Center, Tabriz University of Medical Sciences, between February 2016 and May 2017.

Methodology: Genomic DNA was extracted from peripheral blood cells of 180 people, including 87 cases and 93 healthy controls by standard salting out method. The samples were genotyped using tetra-primer as well as three-primer ARMS-PCR methods. To further verify the results, some samples were sequenced randomly. Tetra-primer and three-primer ARMS-PCR methods revealed no T allele either in cases or in controls and the results were verified with sequencing.

Results: The results obtained showed that all cases and controls were genotypically CC homozygotes. This study did not reveal any association between the rs147542312C/T polymorphism of BACE1-AS with Alzheimer’s disease. So the rs147542312C/T polymorphism of BACE1-AS do not present or may occur in a very low frequency in northwest of Iran.

Conclusion: The results imply that the rs147542312C/T polymorphism of BACE1-AS can’t be considered as an informative genetic change for prevalence of Alzheimer’s disease in northwest of Iran.