AccScience Publishing / GPD / Online First / DOI: 10.36922/gpd.3928
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ORIGINAL RESEARCH ARTICLE

Genetic association of regulatory single nucleotide variants in GSTA1 and SULT1A1 with cigarette smoke-related lung cancer in an eastern Indian population

Arpan Saha1 ,  Madhurima Sinha1 ,  Susweta Roy1 ,  Debmalya Sengupta1 ,  Souradeep Banerjee1 ,  Ritabrata Mitra2 ,  Abhijit Sarkar3 ,  Tamohan Chaudhuri3 ,  Gautam Bhattacharjee3 ,  Somsubhra Nath4 ,  Susanta Roychoudhury5 ,  Mainak Sengupta1*
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1 Department of Genetics, Faculty of Genetics, University of Calcutta, Kolkata, West Bengal, India
2 Department of Chest medicine, IPGME&R, Kolkata, West Bengal, India
3 Department of Radiation Oncology, Saroj Gupta Cancer Centre and Research Institute, Thakurpukur, West Bengal, India
4 Institute of Health Sciences, Presidency University, Kolkata, West Bengal, India
5 Department of Molecular Genetics, CSIR-Indian Institute of Chemical Biology (TRUE Campus), Kolkata, West Bengal, India
GPD 2024, 3(3), 3928 https://doi.org/10.36922/gpd.3928
Submitted: 13 June 2024 | Accepted: 31 August 2024 | Published: 24 September 2024
© 2024 by the Author(s). This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution 4.0 International License ( https://creativecommons.org/licenses/by/4.0/ )
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Abstract

The differential expression of genes involved in xenobiotic metabolism and DNA repair has been implicated in the etiology of cigarette smoke-related lung cancer. Our research group has previously identified 22 gene expression-correlated DNAse hypersensitive sequence-single nucleotide variants (SNVs) with regulatory potential to modulate the transcription of seven xenobiotic metabolisms and seven DNA repair genes, thereby contributing to individual susceptibility to lung cancer. In this study, we evaluated the genetic association between lung cancer and two regulatory SNVs (rSNVs) from the list of 22, namely, rs2207950 (A/G) and rs743590 (G/A), which modulate the expression of the xenobiotic metabolism genes GSTA1 and SULT1A1, respectively. A polymerase chain reaction-restriction fragment length polymorphism-based association study was conducted among lung cancer patients exposed to cigarette smoke and healthy smoker controls from an eastern Indian population. A risk genotype AA of GSTA1 rs2207950, with predictive potential, was significantly over-represented among the patients. This genotype is known to cause lower expression of GSTA1 compared to the other two genotypes, potentially leading to reduced efficiency in clearing cigarette smoke-associated xenobiotics, thereby contributing to lung cancer development. Identifying such rSNVs in specific populations can contribute to the development of tailored therapies based on precision medicine, as well as inform efficient legislation governing tobacco use and genetic counseling.

Keywords
Cigarette smoke
Lung cancer
Xenobiotic metabolism
Regulatory single nucleotide variant
Funding
The study was funded by the Departmental BI grant, Department of Genetics, University of Calcutta (grant no.: 97).
Conflict of interest
The authors declare no conflicts of interest.
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Gene & Protein in Disease, Electronic ISSN: 2811-003X Published by AccScience Publishing
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