2Department of General Surgery, Government Medical College Srinagar and Associated Hospitals, Srinagar-India
3Department of Biochemistry, Government Medical College Baramulla and Associated Hospitals, Kanth Bagh-India DOI : 10.5505/tjo.2025.4512 OBJECTIVE
ARID1A has emerged as a pivotal tumour suppressor gene, essential to chromatin remodelling and gene regulation. In colorectal cancer (CRC), dysregulated ARID1A gene expression triggers uncontrolled cellular growth and chemoresistance. This study investigates the spectrum of ARID1A variants in exon- 9, its mRNA expression in CRC tissues and potential correlations with clinicopathological parameters.
METHODS
The present study was a cross-sectional study conducted on 87 histopathologically confirmed CRC and
their adjacent normal tissue samples, collected from patients attending SMHS Hospital in Kashmir, India.
Sequence elucidation of Exon-9 was done by Di-deoxy Sequencing. mRNA expression of ARID1A
gene was carried out using quantitative real-time PCR (qRT-PCR).
RESULTS
Genomic variants of ARID1A were identified in 19.5% of CRC cases, with a predominant heterozygous
condition. In silico analysis of the Pro916His variant indicated a deleterious effect on protein function
and stability. The mRNA expression of ARID1A was significantly reduced in 17.2% of CRC tissues compared
to their adjacent normal tissue samples (p<0.001), with a 1.43-fold decrease observed.
CONCLUSION
Our study highlights the prevalence of ARID1A variants in CRC among Kashmiri population. This
study proposes that ARID1A under-expression might be relevant in CRC development.