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Association of the 1236C >T variant of the multidrug resistance 1 gene with esophageal squamous cell carcinoma development and prognosis

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posted on 2023-06-10, 05:42 authored by Niloofar Ghobadi, Ghazaleh Khalili-Tanha, Mehrane Mehramiz, Mina Maftooh, Nastaran Bani, Soodabeh ShahidSales, Majid Khazaei, Saeideh Ahmadi-Simab, Raheleh Rahbarian, Hassan Ramshini, Gordon FernsGordon Ferns, Masoumeh Gharib, Amir Avan
Background: Esophageal squamous cell carcinoma (ESCC) is a common cause of cancer related mortality. There is a growing body of evidence showing an association between genetic variants in the 7q21.12 gene locus and an increased risk of cancer. Here we have explored the association between the 1236C >T; rs1128503 genetic variant of the ABCB1/MDR1 gene with the development and prognosis of ESCC. Method: Data from the computer-based patient records (CPRs) of 10 years (between 2005-2014) of the Mashhad University of Medical Sciences were used to identify patients with ESCC. Ninety-three ESCC patients and two hundred and twenty-four healthy subjects were recruited. DNA was extracted and genotyped using a Taq-Man based real-time PCR method. The association of the variant with overall-survival (OS) and progression-free survival (PFS) was analyzed using Kaplan–Meier curves, log-rank tests, and Cox model. Results: Patients with ESCC had a higher frequency of the C allele compared to the control group with Minor allele frequency (MAF) of 1.5. Moreover, 22%, and 56% of cases had TT and TC genotypes, compared to 22% for CC. Patients with TT genotype, versus CC had a higher risk of ESCC (OR: 2.3; 95%CI: 1.08-4.8, P= 0.03), although it was not associated with PFS and OS (e.g., OS of TT genotype: 56.8±6.9 months versus OS of CC genotype: 60.5±5.7 59 months). Conclusion Our data showed a relationship between a genetic polymorphism of the ABCB1 gene with clinical outcomes of the ESCC-patients, supporting further studies in a larger, and multi-centre settings followed by functional assays to assess the prognostic value of this emerging marker in esophageal squamous cell carcinoma patients.

History

Publication status

  • Published

File Version

  • Accepted version

Journal

Human Gene

ISSN

2773-0441

Publisher

Elsevier

Volume

35

Page range

1-7

Department affiliated with

  • Division of Medical Education Publications

Full text available

  • No

Peer reviewed?

  • Yes

Legacy Posted Date

2022-12-15

First Compliant Deposit (FCD) Date

2022-12-15

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