The Role of rs4626 and rs7221352 Polymorphisms on the TOB1 Gene in Turkish Relapsing-Remitting Multiple Sclerosis Patients
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 poly...
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Istanbul University Press
2022-12-01
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| Series: | European Journal of Biology |
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| Online Access: | https://cdn.istanbul.edu.tr/file/JTA6CLJ8T5/E89ECD126793478EB9D21F6FBC8CB038 |
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| author | Fulya Başoğlu Köseahmet Candan Eker Musa Öztürk Şebnem Özdemir Ayhan Köksal Savim Baybaş Tuba Günel |
| author_facet | Fulya Başoğlu Köseahmet Candan Eker Musa Öztürk Şebnem Özdemir Ayhan Köksal Savim Baybaş Tuba Günel |
| author_sort | Fulya Başoğlu Köseahmet |
| collection | DOAJ |
| description | 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 relapsing remitting 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. |
| format | Article |
| id | doaj-art-0e8fbb7bfbf44a40a41fa8cac16150c7 |
| institution | OA Journals |
| issn | 2618-6144 |
| language | English |
| publishDate | 2022-12-01 |
| publisher | Istanbul University Press |
| record_format | Article |
| series | European Journal of Biology |
| spelling | doaj-art-0e8fbb7bfbf44a40a41fa8cac16150c72025-08-20T02:10:39ZengIstanbul University PressEuropean Journal of Biology2618-61442022-12-0181219720510.26650/EurJBiol.2022.1191215123456The Role of rs4626 and rs7221352 Polymorphisms on the TOB1 Gene in Turkish Relapsing-Remitting Multiple Sclerosis PatientsFulya Başoğlu Köseahmet0https://orcid.org/0000-0002-9277-6644Candan Eker1https://orcid.org/0000-0001-9049-6131Musa Öztürk2https://orcid.org/0000-0001-9652-384XŞebnem Özdemir3https://orcid.org/0000-0001-6668-6285Ayhan Köksal4https://orcid.org/0000-0003-4664-2167Savim Baybaş5https://orcid.org/0000-0003-1724-9577Tuba Günel6https://orcid.org/0000-0003-3514-5210Sağlık Bilimleri Üniversitesi, Istanbul, Turkiyeİstanbul Üniversitesi, İstanbul, TürkiyeSağlık Bilimleri Üniversitesi, Istanbul, Turkiyeİstinye Üniversitesi, Istanbul, TurkiyeSağlık Bilimleri Üniversitesi, Istanbul, TurkiyeSağlık Bilimleri Üniversitesi, Istanbul, Turkiyeİstanbul Üniversitesi, İstanbul, TürkiyeObjective: 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 relapsing remitting 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.https://cdn.istanbul.edu.tr/file/JTA6CLJ8T5/E89ECD126793478EB9D21F6FBC8CB038tob1multiple sclerosissingle-nucleotide polymorphismsallelic variationquantitative real-time pcr |
| spellingShingle | Fulya Başoğlu Köseahmet Candan Eker Musa Öztürk Şebnem Özdemir Ayhan Köksal Savim Baybaş Tuba Günel The Role of rs4626 and rs7221352 Polymorphisms on the TOB1 Gene in Turkish Relapsing-Remitting Multiple Sclerosis Patients European Journal of Biology tob1 multiple sclerosis single-nucleotide polymorphisms allelic variation quantitative real-time pcr |
| title | The Role of rs4626 and rs7221352 Polymorphisms on the TOB1 Gene in Turkish Relapsing-Remitting Multiple Sclerosis Patients |
| title_full | The Role of rs4626 and rs7221352 Polymorphisms on the TOB1 Gene in Turkish Relapsing-Remitting Multiple Sclerosis Patients |
| title_fullStr | The Role of rs4626 and rs7221352 Polymorphisms on the TOB1 Gene in Turkish Relapsing-Remitting Multiple Sclerosis Patients |
| title_full_unstemmed | The Role of rs4626 and rs7221352 Polymorphisms on the TOB1 Gene in Turkish Relapsing-Remitting Multiple Sclerosis Patients |
| title_short | The Role of rs4626 and rs7221352 Polymorphisms on the TOB1 Gene in Turkish Relapsing-Remitting Multiple Sclerosis Patients |
| title_sort | role of rs4626 and rs7221352 polymorphisms on the tob1 gene in turkish relapsing remitting multiple sclerosis patients |
| topic | tob1 multiple sclerosis single-nucleotide polymorphisms allelic variation quantitative real-time pcr |
| url | https://cdn.istanbul.edu.tr/file/JTA6CLJ8T5/E89ECD126793478EB9D21F6FBC8CB038 |
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