The Role of rs4626 and rs7221352 Polymorphisms on the TOB1 Gene in Turkish Relapsing-Remitting Multiple Sclerosis Patients

Year 2022, Volume: 81 Issue: 2, 197 - 205, 29.12.2022

Fulya Başoğlu Koseahmet , Candan Eker , Musa Öztürk , Şebnem Özdemir , Ayhan Köksal , Sevim Baybas , Tuba Gunel

https://doi.org/10.26650/EurJBiol.2022.1191215

Abstract

Objective: Multiple sclerosis often causes neurological disability and reduced quality of life. Genetic biomarkers are important tools for the diagnosis and prognoses of diseases. This study has been conducted to explore the haplotype frequencies formed by rs4626 and rs7221352 single-nucleotide polymorphisms (SNPs) in the coding region variant (rs4626) and 5' upstream region intron variant (rs7221352) of the transducer of the ERBB2.1 (TOB1) gene in individuals with relapsingremitting multiple sclerosis. Materials and Methods: Thirty patients with an Expanded Disability Status Scale (EDSS) score<3, 30 patients with EDSS≥5, and 30 healthy controls participated in the study. The TOB1 rs4626 T/C and rs7221352 G/A single-base variations were applied using the quantitative real-time polymerase chain reaction method in accordance with the TaqMan SNP Genotyping Assays instructions. Results: The genotype frequencies of TOB1 rs4626 TT/TC/CC were respectively 3.3%, 53.3%, and 43.3% in the EDSS<3 cases and 10%, 53.3%, and 36.7% in the EDSS≥5 cases. The genotype frequencies of TOB1 rs7221352 GG/AG/AA were respectively 3.3%, 86.7%, and 10% in the EDSS<3 cases and 10%, 70%, and 20% in the EDSS≥5 cases. With respect to the estimated values in the study cohort, allelic variant frequency was higher in the patient group for both SNP variants (p<0.001). Conclusion: The presence of variant alleles in the rs4626 and rs7221352 polymorphisms in TOB1 may have a role in the disease immunopathogenesis. Further investigations involving larger groups are required to understand the effects of TOB1.

Keywords

TOB1, multiple sclerosis, single-nucleotide polymorphisms, allelic variation, quantitative real-time PCR

Supporting Institution

This study was financially supported by the Non-Profit Bakirkoy Mental Health Hospital Foundation.

Project Number

Project no: 2016-152

Thanks

We thank Dr. Ozlem Ulucan Acan (Assist. Prof., Istanbul Bilgi University, Genetics and Bioengineering Department) for her support with statistical analysis.

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