Association study of ms4a6a gene polymorphism rs610932 with sporadic late-onset alzheimers disease

Sharare Sadeghian firouzabadi,1 Dariush d.farhud,2,* Marjan zarif yeganeh,3 Rana hajilou,4

1. Masters of cellular and molecular sciences, Islamic azad university tehran-East, Tehran, Iran. Farhud Genetic Clinic,Tehran, Iran.
2. Farhud Genetic Clinic,Tehran, Iran. School of Public Health, Tehran University of Medical Sciences, Tehran, Iran. Department of Basic Sciences / Ethics, Iranian Academy of Medical Sciences Tehran, Iran.
3. Farhud Genetic Clinic,Tehran, Iran. Cellular and Molecular Endocrine Research Center, Research Institute for Endocrine science , Shahid Beheshti University of Medical Sciences, Tehran ,Iran.
4. Masters of cellular and molecular sciences, Islamic azad university tehran-East, Tehran, Iran. Farhud Genetic Clinic,Tehran, Iran.



Alzheimers disease is the most common cause of dementia in middle age and aging. the disease was first described in 1906 by a german neurologist alois alzheimer. alzheimer is associated with deficiencies in cognitive, memory loss, loss of ability to perform targeted movements and personality changes. the disease is genetically heterogeneous and is influenced by environmental and genetic factors. certain brain regions such as temporal lobes, hippocampus, part of the cortex, and a smaller portion of the lobe of the forehead are involved in alzheimer. alzheimers disease is divided into two early-onset (starting at the age of less than 65 years) and late-onset (beginning at the age of 65 years) based on the age of the onset of the disease. more than 97% of the patients have a late-onset type of alzheimers disease (without family history), while premature alzheimers disease early-onset of only 3% of the population. the ms4a family contains at least 16 parallogues. each gene is probably created through an ancestral cascade of intra-chromosomal duplication during vertebrate evolution. ms4a cluster genes, including ms4a6a, are present in human chromosomes 11q in a continuum with an inherited hypersensitivity. in the expression level in the cerebellum and the temporal cortex, also in the foramen, nasal bridge, or lymphoblast cell lines. several studies have suggested that genes through mechanisms such as the accumulation of beta-amyloid ms4a, lipid metabolism and phagocytosis may be involved in alzheimers disease. this study was conducted to show the association of ms4a6a (rs610932) gene polymorphism with the risk of sporadic alzheimers disease in iranian population.


This study is an analytical case study of case-control type. after confirmation of alzheimers disease by a specialist, 117 patients and 130 controls individuals were sampled. the entry criteria for controls also included the absence of alzheimers disease in individuals and at least the first-degree members of their families. information and sequencing of the ms4a gene was obtained from ncbi and ensembl sites and designed for the polymorphism using suitable primer software. blood samples from controls and patients were extracted from the dna by salting out method. after encoding the samples, the concentration of each of them was determined by reading their absorption (od). tetra arms-pcr condition was adjusted for the desired gene, and then for all controls and patient samples, pcr was performed to replicate the desired part. the products were made on a polyacrylamide gel, electrophoresed and then stained to ensure that the pcr was performed and the desired component was multiplied. finally, the results of the two groups of patients and control were compared to examine whether there was a significant difference between them. 20% of the samples were confirmed by the sequencing.


Based on the existence of two alleles c and a, based on the chi-square, cc / ac / aa genotypes of ms4a6a gene, the distribution and frequency of genotypes in two groups of control and diseased patients with no variables (age and sex) were not significant. the distribution of c and a alleles in rs610932 is identical in both control and patient groups. based on bayesian logistic regression, rs610932 polymorphism, since p value of ac and aa genotypes is more than 0.05, therefore, or in both univariate and multivariate comparisons is not significant and is equal to one, and also has a significant effect between alleles a and c do not absent. control of theeffect of three variables on age and sex and polymorphism rs610932 showed that female sex does not have a significant effect on alzheimers disease and has protective effect. in both univariate and multivariate modes, age has no significant effect on the incidence of disease.


This study showed that distribution of ms4a6a gene rs610932 polymorphism in two control and patient groups did not have a significant relationship with sporadic late-onset alzheimers disease.


Alzheimers disease, ms4a gene, polymorphism