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The Association Between rs11568821 Polymorphism in Programmed Cell Death 1 (PD-1) and the Risk of Endometrial Cancer

Received: 7 July 2022     Accepted: 25 July 2022     Published: 4 August 2022
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Abstract

Background: Endometrial cancer is the second most common gynecological cancer and a leading cause of gynecologic cancer-related deaths worldwide. The aberration in the expression of programmed cell death 1 (PD-1) and its gene polymorphisms have been indicated in several human cancers. In the current study, we aimed to investigate the association between rs11568821 polymorphism in PD-1 and the risk of endometrial cancer. Methods: This experiment was a hospital based, case-control study. We enrolled 91 patients with endometrial cancer and 50 healthy individuals as the control in this study. The mean age of patients in the case and control groups were 57.4 ± 9.7 and 55.1 ± 14 years, respectively. Peripheral blood was taken from these individuals, and DNA extraction was carried out. Polymerase chain reaction (PCR) amplified the region containing rs11568821, followed by restriction fragment length polymorphism (RFLP). Results: Comparison of disease incidence across rs11568821 genotypes showed significant association in recessive model GG vs. AG+AA (P = 0.028) with GG genotype increasing the risk of endometrial cancer. Conclusion: Our results indicated that rs11568821 polymorphism in PD-1 is associated with endometrial cancer. However, further studies in larger cohorts are needed to unravel the exact distribution of the genotypes and alleles of this polymorphism in women with endometrial cancer.

Published in Advances in Surgical Sciences (Volume 10, Issue 2)
DOI 10.11648/j.ass.20221002.11
Page(s) 13-17
Creative Commons

This is an Open Access article, distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution and reproduction in any medium or format, provided the original work is properly cited.

Copyright

Copyright © The Author(s), 2022. Published by Science Publishing Group

Keywords

Endometrial Cancer, PD-1, rs11568821, PCR-RFLP

References
[1] Cancer Stat Facts: Uterine Cancer. 2020 [April 2020]; Available from: https://seer.cancer.gov/statfacts/html/corp.html.
[2] Raglan, O., et al., Risk factors for endometrial cancer: An umbrella review of the literature. 2019. 145 (7): p. 1719-1730.
[3] Watanabe, T., A. Bertoletti, and T. Tanoto, PD-1/PD-L1 pathway and T-cell exhaustion in chronic hepatitis virus infection. Journal of viral hepatitis, 2010. 17 (7): p. 453-458.
[4] Freeman, G. J., et al., Engagement of the PD-1 immunoinhibitory receptor by a novel B7 family member leads to negative regulation of lymphocyte activation. The Journal of experimental medicine, 2000. 192 (7): p. 1027-1034.
[5] Engerud, H., et al., High degree of heterogeneity of PD-L1 and PD-1 from primary to metastatic endometrial cancer. Gynecologic Oncology, 2020. 157 (1): p. 260-267.
[6] Brahmer, J. R., et al., Safety and activity of anti–PD-L1 antibody in patients with advanced cancer. New England Journal of Medicine, 2012. 366 (26): p. 2455-2465.
[7] Mittica, G., et al., Checkpoint inhibitors in endometrial cancer: preclinical rationale and clinical activity. Oncotarget, 2017. 8 (52): p. 90532.
[8] Getz, G., et al., Integrated genomic characterization of endometrial carcinoma. 2013.
[9] Morice, P., et al., Endometrial cancer. The Lancet, 2016. 387 (10023): p. 1094-1108.
[10] Chen, D. S. and I. Mellman, Elements of cancer immunity and the cancer–immune set point. Nature, 2017. 541 (7637): p. 321-330.
[11] Qu, H.-X., et al., Clinicopathological and prognostic significance of programmed cell death ligand 1 (PD-L1) expression in patients with esophageal squamous cell carcinoma: a meta-analysis. Journal of thoracic disease, 2016. 8 (11): p. 3197.
[12] Gao, H.-L., et al., The clinicopathological and prognostic significance of PD-L1 expression in pancreatic cancer: a meta-analysis. Hepatobiliary & Pancreatic Diseases International, 2018. 17 (2): p. 95-100.
[13] Ma, G., et al., The prognostic role of programmed cell death-ligand 1 expression in non-small cell lung cancer patients: an updated meta-analysis. Clinica Chimica Acta, 2018. 482: p. 101-107.
[14] Mahmoudi, M., et al., PDCD1 single nucleotide genes polymorphisms confer susceptibility to juvenile-onset systemic lupus erythematosus. Autoimmunity, 2015. 48 (7): p. 488-93.
[15] Suarez-Gestal, M., et al., Analysis of the functional relevance of a putative regulatory SNP of PDCD1, PD1.3, associated with systemic lupus erythematosus. Genes & Immunity, 2008. 9 (4): p. 309-315.
[16] Dong, W., et al., Programmed Cell Death-1 Polymorphisms Decrease the Cancer Risk: A Meta-Analysis Involving Twelve Case-Control Studies. PLoS One, 2016. 11 (3): p. e0152448.
[17] Haghshenas, M. R., et al., Program death 1 (PD1) haplotyping in patients with breast carcinoma. Mol Biol Rep, 2011. 38 (6): p. 4205-10.
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    Soheila Aminimoghaddam, Roghayeh Amiri, Forough Taheri, Zeynab Nickhah Klashami, Shahla Noori Ardebili, et al. (2022). The Association Between rs11568821 Polymorphism in Programmed Cell Death 1 (PD-1) and the Risk of Endometrial Cancer. Advances in Surgical Sciences, 10(2), 13-17. https://doi.org/10.11648/j.ass.20221002.11

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    ACS Style

    Soheila Aminimoghaddam; Roghayeh Amiri; Forough Taheri; Zeynab Nickhah Klashami; Shahla Noori Ardebili, et al. The Association Between rs11568821 Polymorphism in Programmed Cell Death 1 (PD-1) and the Risk of Endometrial Cancer. Adv. Surg. Sci. 2022, 10(2), 13-17. doi: 10.11648/j.ass.20221002.11

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    AMA Style

    Soheila Aminimoghaddam, Roghayeh Amiri, Forough Taheri, Zeynab Nickhah Klashami, Shahla Noori Ardebili, et al. The Association Between rs11568821 Polymorphism in Programmed Cell Death 1 (PD-1) and the Risk of Endometrial Cancer. Adv Surg Sci. 2022;10(2):13-17. doi: 10.11648/j.ass.20221002.11

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  • @article{10.11648/j.ass.20221002.11,
      author = {Soheila Aminimoghaddam and Roghayeh Amiri and Forough Taheri and Zeynab Nickhah Klashami and Shahla Noori Ardebili and Nafise Noroozi and Mahsa M. Amoli},
      title = {The Association Between rs11568821 Polymorphism in Programmed Cell Death 1 (PD-1) and the Risk of Endometrial Cancer},
      journal = {Advances in Surgical Sciences},
      volume = {10},
      number = {2},
      pages = {13-17},
      doi = {10.11648/j.ass.20221002.11},
      url = {https://doi.org/10.11648/j.ass.20221002.11},
      eprint = {https://article.sciencepublishinggroup.com/pdf/10.11648.j.ass.20221002.11},
      abstract = {Background: Endometrial cancer is the second most common gynecological cancer and a leading cause of gynecologic cancer-related deaths worldwide. The aberration in the expression of programmed cell death 1 (PD-1) and its gene polymorphisms have been indicated in several human cancers. In the current study, we aimed to investigate the association between rs11568821 polymorphism in PD-1 and the risk of endometrial cancer. Methods: This experiment was a hospital based, case-control study. We enrolled 91 patients with endometrial cancer and 50 healthy individuals as the control in this study. The mean age of patients in the case and control groups were 57.4 ± 9.7 and 55.1 ± 14 years, respectively. Peripheral blood was taken from these individuals, and DNA extraction was carried out. Polymerase chain reaction (PCR) amplified the region containing rs11568821, followed by restriction fragment length polymorphism (RFLP). Results: Comparison of disease incidence across rs11568821 genotypes showed significant association in recessive model GG vs. AG+AA (P = 0.028) with GG genotype increasing the risk of endometrial cancer. Conclusion: Our results indicated that rs11568821 polymorphism in PD-1 is associated with endometrial cancer. However, further studies in larger cohorts are needed to unravel the exact distribution of the genotypes and alleles of this polymorphism in women with endometrial cancer.},
     year = {2022}
    }
    

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  • TY  - JOUR
    T1  - The Association Between rs11568821 Polymorphism in Programmed Cell Death 1 (PD-1) and the Risk of Endometrial Cancer
    AU  - Soheila Aminimoghaddam
    AU  - Roghayeh Amiri
    AU  - Forough Taheri
    AU  - Zeynab Nickhah Klashami
    AU  - Shahla Noori Ardebili
    AU  - Nafise Noroozi
    AU  - Mahsa M. Amoli
    Y1  - 2022/08/04
    PY  - 2022
    N1  - https://doi.org/10.11648/j.ass.20221002.11
    DO  - 10.11648/j.ass.20221002.11
    T2  - Advances in Surgical Sciences
    JF  - Advances in Surgical Sciences
    JO  - Advances in Surgical Sciences
    SP  - 13
    EP  - 17
    PB  - Science Publishing Group
    SN  - 2376-6182
    UR  - https://doi.org/10.11648/j.ass.20221002.11
    AB  - Background: Endometrial cancer is the second most common gynecological cancer and a leading cause of gynecologic cancer-related deaths worldwide. The aberration in the expression of programmed cell death 1 (PD-1) and its gene polymorphisms have been indicated in several human cancers. In the current study, we aimed to investigate the association between rs11568821 polymorphism in PD-1 and the risk of endometrial cancer. Methods: This experiment was a hospital based, case-control study. We enrolled 91 patients with endometrial cancer and 50 healthy individuals as the control in this study. The mean age of patients in the case and control groups were 57.4 ± 9.7 and 55.1 ± 14 years, respectively. Peripheral blood was taken from these individuals, and DNA extraction was carried out. Polymerase chain reaction (PCR) amplified the region containing rs11568821, followed by restriction fragment length polymorphism (RFLP). Results: Comparison of disease incidence across rs11568821 genotypes showed significant association in recessive model GG vs. AG+AA (P = 0.028) with GG genotype increasing the risk of endometrial cancer. Conclusion: Our results indicated that rs11568821 polymorphism in PD-1 is associated with endometrial cancer. However, further studies in larger cohorts are needed to unravel the exact distribution of the genotypes and alleles of this polymorphism in women with endometrial cancer.
    VL  - 10
    IS  - 2
    ER  - 

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Author Information
  • Department of Obstetrics and Gynecology, School of Medicine, Iran University of Medical Sciences, Tehran, Iran

  • Department of Obstetrics and Gynecology, School of Medicine, Iran University of Medical Sciences, Tehran, Iran

  • Endocrinology and Metabolism Research Center, Endocrinology and Metabolism Clinical Sciences Institute, Tehran University of Medical Sciences, Tehran, Iran

  • Endocrinology and Metabolism Research Center, Endocrinology and Metabolism Clinical Sciences Institute, Tehran University of Medical Sciences, Tehran, Iran

  • Department of Obstetrics and Gynecology, Atieh Hospital, Tehran, Iran

  • Metabolomics and Genomics Research Center, Cellular and Molecular Institute Endocrinology and Metabolism Research Institute, Tehran University of Medical Sciences, Tehran, Iran

  • Metabolic Disorders Research Centre, Endocrinology and Metabolism Molecular-Cellular Sciences Institute, Tehran University of Medical Sciences, Tehran, Iran

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