Open AccessAssociation between TBXT rs2305089 polymorphism and chordoma in Iranian patients identified by a developed T‐ARMS‐PCR assay
Author(s) -
Jalessi Maryam,
Gholami Mohammad Saeed,
Razmara Ehsan,
Hassanzadeh Sajad,
Sadeghipour Alireza,
Jahanbakhshi Amin,
Tabibkhooei Alireza,
Bahrami Eshagh,
Falah Masoumeh
Publication year - 2022
Publication title -
journal of clinical laboratory analysis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.536
H-Index - 50
eISSN - 1098-2825
pISSN - 0887-8013
DOI - 10.1002/jcla.24150
Subject(s) - chordoma , sanger sequencing , genotype , polymerase chain reaction , biology , primer (cosmetics) , allele , population , genetics , mutation , oncology , medicine , pathology , gene , chemistry , environmental health , organic chemistry
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. 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. 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. 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.