Single Nucleotide Polymorphisms [SNPs] in the Shadows: Uncovering their Function in Non-Coding Region of Esophageal Cancer

Surovi Saikia; Humzah Postwala; Vishnu Prabhu Athilingam; Aparna A; V Vijaya Padma; Partha P Kalita; Mehul Chorawala; Bhupendra Prajapati

doi:10.2174/0113892010265004231116092802

Single Nucleotide Polymorphisms [SNPs] in the Shadows: Uncovering their Function in Non-Coding Region of Esophageal Cancer

Curr Pharm Biotechnol. 2024 Jan 15. doi: 10.2174/0113892010265004231116092802. Online ahead of print.

Authors

Surovi Saikia¹, Humzah Postwala², Vishnu Prabhu Athilingam¹, Aparna A¹, V Vijaya Padma¹, Partha P Kalita³, Mehul Chorawala², Bhupendra Prajapati⁴

Affiliations

¹ Translational Research Laboratory, Department of Biotechnology, Bharathiar University, Coimbatore - 641 046, Tamil Nadu, India.
² Department of Pharmacology and Pharmacy Practice, L. M. College of Pharmacy, Ahmedabad, India.
³ Program of Biotechnology, Assam down town University, Panikhaiti, Guwahati -781026, Asssam, India.
⁴ Shree. S. K. Patel College of Pharmaceutical Education and Research, Ganpat University, Kherva, Gujarat, India.

PMID: 38310451
DOI: 10.2174/0113892010265004231116092802

Abstract

Esophageal cancer is a complex disease influenced by genetic and environmental factors. Single nucleotide polymorphisms [SNPs] in non-coding regions of the genome have emerged as crucial contributors to esophageal cancer susceptibility. This review provides a comprehensive overview of the role of SNPs in non-coding regions and their association with esophageal cancer. The accumulation of SNPs in the genome has been implicated in esophageal cancer risk. Various studies have identified specific locations in the genome where SNPs are more likely to occur, suggesting a location-specific response. Chromatin conformational studies have shed light on the localization of SNPs and their impact on gene transcription, posttranscriptional modifications, gene expression regulation, and histone modification. Furthermore, miRNA-related SNPs have been found to play a significant role in esophageal squamous cell carcinoma [ESCC]. These SNPs can affect miRNA binding sites, thereby altering target gene regulation and contributing to ESCC development. Additionally, the risk of ESCC has been linked to base excision repair, suggesting that SNPs in this pathway may influence disease susceptibility. Somatic DNA segment alterations and modified expression quantitative trait loci [eQTL] have also been associated with ESCC. These alterations can lead to disrupted gene expression and cellular processes, ultimately contributing to cancer development and progression. Moreover, SNPs have been found to be associated with the long non-coding RNA HOTAIR, which plays a crucial role in ESCC pathogenesis. This review concludes with a discussion of the current and future perspectives in the field of SNPs in non-coding regions and their relevance to esophageal cancer. Understanding the functional implications of these SNPs may lead to the identification of novel therapeutic targets and the development of personalized approaches for esophageal cancer prevention and treatment.

Keywords: Esophageal cancer; Expression quantitative trait loci (eQTL); Personalized medicine; Single nucleotide polymorphisms (SNPs); long non-coding RNA; miRNA; non-coding region.