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Sequence Variants in PSMB8/PSMB9 Immunoproteasome Genes and Risk of Urothelial Bladder Carcinoma

Background: The PSMB8 and PSMB9 immunoproteasome genes are essential in cell processes, such as decisions on cell survival or death, the cell cycle, and cellular differentiation. Because recent evidence has demonstrated an immunological role for proteasomes in various malignancies, including urothel...

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Autores principales: Elhawary, Nasser A, Ekram, Samar N, Abumansour, Iman S, Azher, Zohor A, AlJahdali, Imad A, Alyamani, Najiah M, Naffadi, Hind M, Sindi, Ikhlas A, Baazeem, Abdulaziz, Nassir, Anmar M, Mufti, Ahmad H
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10022703/
https://www.ncbi.nlm.nih.gov/pubmed/36937130
http://dx.doi.org/10.7759/cureus.36293
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author Elhawary, Nasser A
Ekram, Samar N
Abumansour, Iman S
Azher, Zohor A
AlJahdali, Imad A
Alyamani, Najiah M
Naffadi, Hind M
Sindi, Ikhlas A
Baazeem, Abdulaziz
Nassir, Anmar M
Mufti, Ahmad H
author_facet Elhawary, Nasser A
Ekram, Samar N
Abumansour, Iman S
Azher, Zohor A
AlJahdali, Imad A
Alyamani, Najiah M
Naffadi, Hind M
Sindi, Ikhlas A
Baazeem, Abdulaziz
Nassir, Anmar M
Mufti, Ahmad H
author_sort Elhawary, Nasser A
collection PubMed
description Background: The PSMB8 and PSMB9 immunoproteasome genes are essential in cell processes, such as decisions on cell survival or death, the cell cycle, and cellular differentiation. Because recent evidence has demonstrated an immunological role for proteasomes in various malignancies, including urothelial bladder carcinoma (UBC), we evaluated single nucleotide polymorphisms (SNPs) in PSMB9 and PSMB8. We determined any associations between these SNPs and susceptibility to UBC in the Saudi community. Methods: Samples of genomic DNA were taken from buccal cells of 111 patients with UBC and 78 healthy controls. TaqMan Real-Time PCR was used to determine genotype distributions and allele frequencies for the PSMB9 rs17587 G>A and PSMB8 rs2071543 G>T SNPs. We used SNPStats (https://www.snpstats.net) to choose each SNP's best interactive inheritance model. Results: The PSMB9 rs17587 SNP was associated with the risk of UBC (odds ratio [OR] = 5.21, P < 0.0001). In contrast, the PSMB8 rs2071543 SNP showed no association with UBC risk (OR = 1.13, P = 0.7871). In terms of genotypic distribution, the rs17587 G>A SNP was more frequent in UBC cases than controls in both the dominant (OR = 7.5; 95% confidence interval, 3.7-15.1; P = 0.0051) and recessive (OR = 17.11, 95% confidence interval 5.1-57.4; P = 0.0026) models. Genotypic distribution of the PSMB8 rs2071543 G>T SNP was not significantly different between cases and controls in any interactive inheritance models (P > 0.05). Conclusion: These results suggest a potential role for PSMB9 as a biomarker for increased UBC risk. Discovering more genetic variants within immunoproteasome genes related to antigen presentation could help further our understanding of this risk.
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spelling pubmed-100227032023-03-18 Sequence Variants in PSMB8/PSMB9 Immunoproteasome Genes and Risk of Urothelial Bladder Carcinoma Elhawary, Nasser A Ekram, Samar N Abumansour, Iman S Azher, Zohor A AlJahdali, Imad A Alyamani, Najiah M Naffadi, Hind M Sindi, Ikhlas A Baazeem, Abdulaziz Nassir, Anmar M Mufti, Ahmad H Cureus Genetics Background: The PSMB8 and PSMB9 immunoproteasome genes are essential in cell processes, such as decisions on cell survival or death, the cell cycle, and cellular differentiation. Because recent evidence has demonstrated an immunological role for proteasomes in various malignancies, including urothelial bladder carcinoma (UBC), we evaluated single nucleotide polymorphisms (SNPs) in PSMB9 and PSMB8. We determined any associations between these SNPs and susceptibility to UBC in the Saudi community. Methods: Samples of genomic DNA were taken from buccal cells of 111 patients with UBC and 78 healthy controls. TaqMan Real-Time PCR was used to determine genotype distributions and allele frequencies for the PSMB9 rs17587 G>A and PSMB8 rs2071543 G>T SNPs. We used SNPStats (https://www.snpstats.net) to choose each SNP's best interactive inheritance model. Results: The PSMB9 rs17587 SNP was associated with the risk of UBC (odds ratio [OR] = 5.21, P < 0.0001). In contrast, the PSMB8 rs2071543 SNP showed no association with UBC risk (OR = 1.13, P = 0.7871). In terms of genotypic distribution, the rs17587 G>A SNP was more frequent in UBC cases than controls in both the dominant (OR = 7.5; 95% confidence interval, 3.7-15.1; P = 0.0051) and recessive (OR = 17.11, 95% confidence interval 5.1-57.4; P = 0.0026) models. Genotypic distribution of the PSMB8 rs2071543 G>T SNP was not significantly different between cases and controls in any interactive inheritance models (P > 0.05). Conclusion: These results suggest a potential role for PSMB9 as a biomarker for increased UBC risk. Discovering more genetic variants within immunoproteasome genes related to antigen presentation could help further our understanding of this risk. Cureus 2023-03-17 /pmc/articles/PMC10022703/ /pubmed/36937130 http://dx.doi.org/10.7759/cureus.36293 Text en Copyright © 2023, Elhawary et al. https://creativecommons.org/licenses/by/3.0/This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
spellingShingle Genetics
Elhawary, Nasser A
Ekram, Samar N
Abumansour, Iman S
Azher, Zohor A
AlJahdali, Imad A
Alyamani, Najiah M
Naffadi, Hind M
Sindi, Ikhlas A
Baazeem, Abdulaziz
Nassir, Anmar M
Mufti, Ahmad H
Sequence Variants in PSMB8/PSMB9 Immunoproteasome Genes and Risk of Urothelial Bladder Carcinoma
title Sequence Variants in PSMB8/PSMB9 Immunoproteasome Genes and Risk of Urothelial Bladder Carcinoma
title_full Sequence Variants in PSMB8/PSMB9 Immunoproteasome Genes and Risk of Urothelial Bladder Carcinoma
title_fullStr Sequence Variants in PSMB8/PSMB9 Immunoproteasome Genes and Risk of Urothelial Bladder Carcinoma
title_full_unstemmed Sequence Variants in PSMB8/PSMB9 Immunoproteasome Genes and Risk of Urothelial Bladder Carcinoma
title_short Sequence Variants in PSMB8/PSMB9 Immunoproteasome Genes and Risk of Urothelial Bladder Carcinoma
title_sort sequence variants in psmb8/psmb9 immunoproteasome genes and risk of urothelial bladder carcinoma
topic Genetics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10022703/
https://www.ncbi.nlm.nih.gov/pubmed/36937130
http://dx.doi.org/10.7759/cureus.36293
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