Document Type : Original Paper


1 Department of Genetics, Faculty of Basic Sciences, Islamic Azad University, North Tehran Branch, Tehran, Iran

2 Assistant Professor, Department of Microbiology, School of Basic Sciences, Saveh Branch, Islamic Azad University, Saveh, Iran.



Alzheimer's disease is the most common cause of dementia in the elderly. One of the polymorphisms in Alzheimer's disease is rs7920721 in ECHDC3 gene, which has not been studied in the population of Iranian Alzheimer's patients and was evaluated in the present study. The present case-control study was performed in 2021 on 100 patients with Alzheimer's disease and 100 healthy controls. Following blood sampling and DNA extraction, rs7920721 polymorphism was examined using Tetra ARMS PCR. The frequency of AA, AG and GG genotypes in rs7920721 in the control group was 89, 10 and 1%, respectively, and in people with Alzheimer's disease were 73, 23 and 4%, respectively (P = 0.014). The frequency of A and G alleles in the control group was 94% and 6%, respectively, and in people with Alzheimer's disease were 84.5% and 15.5%, respectively (P = 0.046). The value (OR = 2.874) (CI95% = 1.43-5.77) indicated an increased probability of disease in the presence of polymorphism. Both the case and control populations were also in the Hardy-Weinberg equilibrium. The results of the present study showed that the presence of G allele in rs7920721 of ECHDC3 gene can be associated with an increased risk of Alzheimer's disease in the Iranian population. As a result, this polymorphism can be introduced as a potential biomarker for Alzheimer's disease.