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Gene & Protein in Disease





                                        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



                                                                     1
                                        Arpan Saha 1  , Madhurima Sinha , Susweta Roy 1  , Debmalya Sengupta 1  ,
                                                                                                            3
                                                                          2
                                        Souradeep Banerjee 1  , Ritabrata Mitra , Abhijit Sarkar , Tamohan Chaudhuri ,
                                                                                        3
                                                            3
                                        Gautam Bhattacharjee , Somsubhra Nath 4  , Susanta Roychoudhury 5  , and
                                                       1
                                        Mainak Sengupta *
                                        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



                                        Abstract

                                        The differential expression  of genes involved in xenobiotic metabolism  and DNA
            *Corresponding author:      repair has been implicated in the etiology of cigarette smoke-related lung cancer.
            Mainak Sengupta             Our research group has previously identified 22 gene expression-correlated DNAse
            (msgntcs@caluniv.ac.in)
                                        hypersensitive sequence-single nucleotide variants (SNVs) with regulatory potential
            Citation: Saha A, Sinha M, Roy  S,   to modulate the transcription of seven xenobiotic metabolisms and seven DNA
            et al. Genetic association of
            regulatory single nucleotide variants   repair genes, thereby contributing to individual susceptibility to lung cancer. In
            in GSTA1 and SULT1A1 with   this study, we evaluated the genetic association between lung cancer and two
            cigarette smoke-related lung cancer   regulatory SNVs (rSNVs) from the list of 22, namely, rs2207950 (A/G) and rs743590
            in an eastern Indian population.
            Gene Protein Dis. 2024;3(3):3928.   (G/A), which modulate the expression of the xenobiotic metabolism genes GSTA1
            doi: 10.36922/gpd.3928      and SULT1A1, respectively. A polymerase chain reaction-restriction fragment length
                                        polymorphism-based association study was conducted among lung cancer patients
            Received: June 13, 2024
            Accepted: August 31, 2024   exposed to cigarette smoke and healthy smoker controls from an eastern Indian
            Published Online: September 24,   population. A  risk genotype  AA of  GSTA1 rs2207950, with predictive potential,
            2024                        was significantly over-represented among the patients. This genotype is known to
            Copyright: © 2024 Author(s).   cause lower expression of GSTA1 compared to the other two genotypes, potentially
            This is an Open-Access article   leading  to  reduced  efficiency  in  clearing  cigarette  smoke-associated  xenobiotics,
            distributed under the terms of the
            Creative Commons Attribution   thereby contributing to lung cancer development. Identifying such rSNVs in specific
            License, permitting distribution,   populations  can  contribute  to  the  development  of  tailored  therapies  based  on
            and reproduction in any medium,   precision medicine, as well as inform efficient legislation governing tobacco use and
            provided the original work is
            properly cited.             genetic counseling.
            Publisher’s Note: AccScience
            Publishing remains neutral with   Keywords: Cigarette smoke; Lung cancer; Xenobiotic metabolism; Regulatory single
            regard to jurisdictional claims in
            published maps and institutional   nucleotide variant
            affiliations.




            Volume 3 Issue 3 (2024)                         1                               doi: 10.36922/gpd.3928
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