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Association between TBXT rs2305089 polymorphism and chordoma in Iranian patients identified by a developed T-ARMS-PCR assay.
- Source :
-
Journal of clinical laboratory analysis [J Clin Lab Anal] 2022 Jan; Vol. 36 (1), pp. e24150. Date of Electronic Publication: 2021 Nov 27. - Publication Year :
- 2022
-
Abstract
- Background: Chordoma is a locally aggressive bone tumor with a high capability of recurrence. Because chordoma often occurs at critical locations next to neurovascular structures, there is an urgent need to introduce validated biomarkers. T-box transcription factor T (TBXT; OMIM: 601397) plays an important role in the pathogenesis and survival of chordoma cells.<br />Methods: Herein, we aimed to show whether rs2305089 polymorphism is correlated with chordoma in the Iranian population. In order to detect rs2305089, tetra-primer amplification refractory mutation system-polymerase chain reaction (T-ARMS-PCR) was used. In total, 19 chordoma patients and 108 normal healthy individuals were recruited and screened using T-ARMS-PCR. The results were subsequently validated by Sanger sequencing.<br />Results: The genotype distributions and allele frequencies were significantly different among the patient and healthy groups (p-value <0.05). The A allele of rs2305089 showed a significant positive association with chordoma risk (p-value <0.05). DNA sequencing verified the T-ARMS-PCR results as well. This study demonstrated the association between TBXT rs2305089 and chordoma in an Iranian population using a simple, accurate, and cost-effective T-ARMS-PCR assay.<br />Conclusions: Our results were in line with those of previous studies showing that TBXT rs2305089 is associated with chordoma development. We also developed an efficient T-ARMS-PCR assay to determine the genotype of rs2305089.<br /> (© 2021 The Authors. Journal of Clinical Laboratory Analysis published by Wiley Periodicals LLC.)
- Subjects :
- Adolescent
Adult
Aged
Aged, 80 and over
Biomarkers, Tumor
Bone Neoplasms epidemiology
Bone Neoplasms genetics
Case-Control Studies
Female
Humans
Male
Middle Aged
Polymerase Chain Reaction
Young Adult
Chordoma epidemiology
Chordoma genetics
Fetal Proteins genetics
Genetic Predisposition to Disease genetics
Polymorphism, Single Nucleotide genetics
T-Box Domain Proteins genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1098-2825
- Volume :
- 36
- Issue :
- 1
- Database :
- MEDLINE
- Journal :
- Journal of clinical laboratory analysis
- Publication Type :
- Academic Journal
- Accession number :
- 34837714
- Full Text :
- https://doi.org/10.1002/jcla.24150