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

• Published in: European journal of biology Vol. 81; no. 2; pp. 197 - 205
• Main Authors: Koseahmet, Fulya Basoglu, Eker, Candan, Ozturk, Musa, Ozdemir, Sebnem, Koksal, Ayhan, Baybas, Sevim, Gunel, Tuba
• Format: Journal Article
• Language: English
• Published: Istanbul University Press 01-12-2022
• Subjects: Development and progression; Genes; Genetic aspects; Medical research; Medicine, Experimental; Multiple sclerosis; Prognosis; Single nucleotide polymorphisms
• ISSN: 2602-2575
• DOI: 10.26650/EurJBiol.2022.1191215

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[greater than or equal to]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[greater than or equal to]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[greater than or equal to]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