Association study of ankrd55 (rs6859219) gene polymorphism in multiple sclerosis patients

Sepideh Mandegarfard,1,* Seyed abolhassan shahzadeh fazeli,2 Seyed mohsen miresmaeili,3

1. Sepideh mandegarfard, Department of Biology, Science & Arts University , yazd , iran
2. Departments of molecular and Cellular Biology, Faculty of basic Sciences and Advanced Technologies in Biology, University of Science and Culture,Tehran, Iran ,Iranian Biological Resource center (IBRC), ACECR., Tehran, Iran
3. Seyed Mohsen Miresmaeili, Department of Biology, Science & Arts University , yazd , iran

Abstract

Introduction

multiple sclerosis is an inflammatory disease in which the myelin sheaths of the nerve cells are damaged in the brain and spinal cord. this damage affects the ability of parts of the nervous system that are responsible for communication. in this regard, the gene ankrd55 (ankyrin repeat domain-containing protein 55( located on chromosome 5q11.2 , encodes the ‘ankyrin repeat domaincontaining protein 55’the function of which is currently unknown. rs6859219 is located in intron 7 of the gene, which is highly expressed in cd4 effector memory cells. ankyrin repeats are abundant in a large number of different proteins in humans and mediate protein–protein interactions. dna-sequence variants in ankyrin repeat domain-containing proteins have been linked to a wide range of diseases. aim this study is association of ankrd55 gene polymorphism in multiple sclerosis patient and has not been studied in these patients with multiple sclerosis, and this is the first time in iran is done.

Methods

In this study, blood samples were taken from 40 healthy persons and 40 patients. the dna was extracted and pcr was performed then pcr products were sequenced. finally, the results were analyzed by spss software

Results

The target mutation has three gg (healthy), gt (heterozygote), tt (patient) genotypes. based on statistical analysis, the patient group had 62.5% gg genotype, 32.5% gt genotype and 5% tt genotype. in the control group, 85% had gg genotype, 10% gt genotype and 5% tt genotype. the results of statistical analyzes as well as sequencing tests showed that, in the study of the relationship between genotype and disease with chi-square test, this relationship was statistically significant with 95% confidence interval (p.value = 0.046)

Conclusion

There is a significant relationship between ms and genotype, and the heterozygote gt genotype can increase the risk of ms, but in another study, using a logistic regression test for multivariate testing (eg, age, gender, smoking, addiction, and proximity to chemicals), in which 95% had no significant relationship with other variables and ms. the different results obtained in these studies can be due to differences in sampling criteria and geographical distribution.

Keywords

ankrd55, multiple sclerosis , polymorphis