Investigation of Gene Variants in Patients with Endometrial Cancer: A Case-control Study

Overview

Journal Turk J Obstet Gynecol

Specialty Gynecology & Obstetrics

Date 2024 Jun 10

PMID 38853448

Authors

Mohammad Javad Fattahi

Mozhdeh Momtahan

Maryam Poostkar

Zahra Shiravani

Nasrollah Erfani

Mohammad Reza Haghshenas

Masoumeh Hashemi

Abbas Ghaderi

Ali Kashkooe

Affiliations

Soon will be listed here.

Abstract

Objective: To assess the possible association of two single-nucleotide polymorphisms (SNPs), PD-1.3 (+7146G/A) and PD-1.5 (+7785C/T), with endometrial cancer (EC) susceptibility. In addition, the correlations between these SNPs and available clinicopathologic characteristics of patients with EC were investigated.

Materials And Methods: In this case-control study, 147 women with pathologically confirmed EC and 258 age- and ethnically matched healthy women were enrolled between June 2019 and May 2022. Genomic DNA was extracted, and genotyping of PD-1.3 (+7146G/A) and PD-1.5 (+7785C/T) SNPs was performed. Haplotype analysis was also performed. Pearson's chi-square test with Yates correction was used to evaluate differences in allele and genotype distributions. The 95% confidence interval and odds ratio were determined using an unconditional logistic regression model.

Results: There were no remarkable differences in the allele and genotype distributions of PD-1.3 (rs11568821) and PD-1.5 (rs2227981) between healthy controls and EC patients. However, there was a remarkable difference in the AC haplotype between the control and EC groups. No association was found between the investigated SNPs and the clinicopathologic features of EC.

Conclusion: Our results indicated that the aforementioned SNPs were not related to the risk of EC in the southern Iranian population.

References

Darvin P, Toor S, Sasidharan Nair V, Elkord E . Immune checkpoint inhibitors: recent progress and potential biomarkers. Exp Mol Med. 2018; 50(12):1-11. PMC: 6292890. DOI: 10.1038/s12276-018-0191-1. View

Bafligil C, Thompson D, Lophatananon A, Smith M, Ryan N, Naqvi A . Association between genetic polymorphisms and endometrial cancer risk: a systematic review. J Med Genet. 2020; 57(9):591-600. PMC: 7476276. DOI: 10.1136/jmedgenet-2019-106529. View

Morice P, Leary A, Creutzberg C, Abu-Rustum N, Darai E . Endometrial cancer. Lancet. 2015; 387(10023):1094-1108. DOI: 10.1016/S0140-6736(15)00130-0. View

Jindal V, Gupta S . Expected Paradigm Shift in Brain Metastases Therapy-Immune Checkpoint Inhibitors. Mol Neurobiol. 2018; 55(8):7072-7078. DOI: 10.1007/s12035-018-0905-3. View

Wen Y, Liu J, Su Y, Chen X, Hou Y, Liao L . Forensic biogeographical ancestry inference: recent insights and current trends. Genes Genomics. 2023; 45(10):1229-1238. DOI: 10.1007/s13258-023-01387-5. View

Haghshenas M, Dabbaghmanesh M, Miri A, Ghaderi A, Erfani N . Association of PDCD1 gene markers with susceptibility to thyroid cancer. J Endocrinol Invest. 2016; 40(5):481-486. DOI: 10.1007/s40618-016-0579-5. View

Salmaninejad A, Valilou S, Shabgah A, Aslani S, Alimardani M, Pasdar A . PD-1/PD-L1 pathway: Basic biology and role in cancer immunotherapy. J Cell Physiol. 2019; 234(10):16824-16837. DOI: 10.1002/jcp.28358. View

Yarchoan M, Albacker L, Hopkins A, Montesion M, Murugesan K, Vithayathil T . PD-L1 expression and tumor mutational burden are independent biomarkers in most cancers. JCI Insight. 2019; 4(6). PMC: 6482991. DOI: 10.1172/jci.insight.126908. View

Savabkar S, Azimzadeh P, Chaleshi V, Nazemalhosseini Mojarad E, Aghdaei H . Programmed death-1 gene polymorphism (PD-1.5 C/T) is associated with gastric cancer. Gastroenterol Hepatol Bed Bench. 2014; 6(4):178-82. PMC: 4017527. View

10.

Fathi F, Ebrahimi M, Eslami A, Hafezi H, Eskandari N, Motedayyen H . Association of programmed death-1 gene polymorphisms with the risk of basal cell carcinoma. Int J Immunogenet. 2019; 46(6):444-450. DOI: 10.1111/iji.12447. View

11.

Yin L, Guo H, Zhao L, Wang J . The programmed death-1 gene polymorphism (PD-1.5 C/T) is associated with non-small cell lung cancer risk in a Chinese Han population. Int J Clin Exp Med. 2015; 7(12):5832-6. PMC: 4307562. View

12.

Parakh S, Musafer A, Paessler S, Witkowski T, Li Wai Suen C, Tutuka C . Polymorphisms May Predict Response to Anti-PD-1 Blockade in Patients With Metastatic Melanoma. Front Immunol. 2021; 12:672521. PMC: 8220213. DOI: 10.3389/fimmu.2021.672521. View

13.

Namavar Jahromi F, Samadi M, Mojtahedi Z, Haghshenas M, Taghipour M, Erfani N . Association of PD-1.5 C/T, but Not PD-1.3 G/A, with Malignant and Benign Brain Tumors in Iranian Patients. Immunol Invest. 2017; 46(5):469-480. DOI: 10.1080/08820139.2017.1296858. View

14.

Li Y, Zhang H, Kang S, Zhou R, Wang N . The effect of polymorphisms in PD-1 gene on the risk of epithelial ovarian cancer and patients' outcomes. Gynecol Oncol. 2016; 144(1):140-145. DOI: 10.1016/j.ygyno.2016.11.010. View

15.

Ma Y, Liu X, Zhu J, Li W, Guo L, Han X . Polymorphisms of co-inhibitory molecules (CTLA-4/PD-1/PD-L1) and the risk of non-small cell lung cancer in a Chinese population. Int J Clin Exp Med. 2015; 8(9):16585-91. PMC: 4659076. View

16.

Bayram S, Akkiz H, Ulger Y, Bekar A, Akgollu E, Yildirim S . Lack of an association of programmed cell death-1 PD1.3 polymorphism with risk of hepatocellular carcinoma susceptibility in Turkish population: a case-control study. Gene. 2012; 511(2):308-13. DOI: 10.1016/j.gene.2012.09.119. View

17.

Mojtahedi Z, Mohmedi M, Rahimifar S, Erfani N, Hosseini S, Ghaderi A . Programmed death-1 gene polymorphism (PD-1.5 C/T) is associated with colon cancer. Gene. 2012; 508(2):229-32. DOI: 10.1016/j.gene.2012.07.059. View

18.

Siegel R, Miller K, Fuchs H, Jemal A . Cancer statistics, 2022. CA Cancer J Clin. 2022; 72(1):7-33. DOI: 10.3322/caac.21708. View

19.

Dong W, Gong M, Shi Z, Xiao J, Zhang J, Peng J . Programmed Cell Death-1 Polymorphisms Decrease the Cancer Risk: A Meta-Analysis Involving Twelve Case-Control Studies. PLoS One. 2016; 11(3):e0152448. PMC: 4816386. DOI: 10.1371/journal.pone.0152448. View

20.

Siegel R, Miller K, Jemal A . Cancer statistics, 2019. CA Cancer J Clin. 2019; 69(1):7-34. DOI: 10.3322/caac.21551. View