Comparison of IL-10 gene promoter polymorphisms and haplotypes between high-grade squamous intraepithelial lesions or cervical cancer and negative cervical cytology

Abstract Cervical cancer, a leading cancer among women, is strongly associated with Human Papillomavirus infection, but host genetic factors also contribute to the progression from high-grade squamous intraepithelial lesions (HSIL) to invasive cancer. Interleukin-10 (IL-10), an immunosuppressive cyt...

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Main Authors: Amaxsell Thiago Barros de Souza, Deborah Luisa de Sousa Santos, Fernanda Silva Medeiros, Kleyton Thiago Costa de Carvalho, George Alexandre Lira, Ricardo Ney Cobucci, Kassio Michell Gomes de Lima, Norma Lucena-Silva, Eduardo Antônio Donadi, Janaina Cristiana de Oliveira Crispim
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Language:English
Published: Nature Portfolio 2025-08-01
Series:Scientific Reports
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Online Access:https://doi.org/10.1038/s41598-025-12851-5
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author Amaxsell Thiago Barros de Souza
Deborah Luisa de Sousa Santos
Fernanda Silva Medeiros
Kleyton Thiago Costa de Carvalho
George Alexandre Lira
Ricardo Ney Cobucci
Kassio Michell Gomes de Lima
Norma Lucena-Silva
Eduardo Antônio Donadi
Janaina Cristiana de Oliveira Crispim
author_facet Amaxsell Thiago Barros de Souza
Deborah Luisa de Sousa Santos
Fernanda Silva Medeiros
Kleyton Thiago Costa de Carvalho
George Alexandre Lira
Ricardo Ney Cobucci
Kassio Michell Gomes de Lima
Norma Lucena-Silva
Eduardo Antônio Donadi
Janaina Cristiana de Oliveira Crispim
author_sort Amaxsell Thiago Barros de Souza
collection DOAJ
description Abstract Cervical cancer, a leading cancer among women, is strongly associated with Human Papillomavirus infection, but host genetic factors also contribute to the progression from high-grade squamous intraepithelial lesions (HSIL) to invasive cancer. Interleukin-10 (IL-10), an immunosuppressive cytokine, may influence susceptibility to HSIL and cervical cancer through genetic variations. This study aimed to compare IL-10 gene promoter polymorphisms, -1082 A > G and − 819T > C, in women diagnosed with HSIL or cervical cancer and those with negative for intraepithelial lesion or malignancy (NILM). In this case-control study, 309 women were analyzed, including 142 with HSIL or cervical cancer and 167 controls with NILM. Blood samples were collected for DNA extraction and genotyping of polymorphisms through PCR amplification. Statistical analyses included comparisons of genotype and allele frequencies, haplotype frequency, and assessments of Hardy-Weinberg equilibrium and linkage disequilibrium. The mean age was 33.4 years for cases and 41.7 years for controls (p < 0.05). For the − 1082 A > G polymorphism, the GG genotype was significantly associated with a decreased risk of HSIL and cervical cancer (p = 0.0266, OR = 0.35). Recessive model (GG vs. AA + AG) confirmed this association (p = 0.0045, OR = 0.29). AC/GC diplotype was associated with a 2-fold increased risk of cervical lesions. Further studies are needed to confirm our results.
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spelling doaj-art-8ece39e2ea874fcc970f00316cf2b07f2025-08-20T03:42:35ZengNature PortfolioScientific Reports2045-23222025-08-0115111010.1038/s41598-025-12851-5Comparison of IL-10 gene promoter polymorphisms and haplotypes between high-grade squamous intraepithelial lesions or cervical cancer and negative cervical cytologyAmaxsell Thiago Barros de Souza0Deborah Luisa de Sousa Santos1Fernanda Silva Medeiros2Kleyton Thiago Costa de Carvalho3George Alexandre Lira4Ricardo Ney Cobucci5Kassio Michell Gomes de Lima6Norma Lucena-Silva7Eduardo Antônio Donadi8Janaina Cristiana de Oliveira Crispim9Postgraduate Program in Science Applied to Women’s Health, Federal University of Rio Grande do NorteDepartment of Pharmacy, Federal University of Rio Grande do NorteLaboratory of Immunogenetics, Aggeu Magalhães Institute, Oswaldo Cruz FoundationDepartment of Clinical and Toxicological Analysis, Federal University of Rio Grande do NortePostgraduate Program in Health Sciences, Federal University of Rio Grande do NortePostgraduate Program in Science Applied to Women’s Health, Federal University of Rio Grande do NorteBiological Chemistry and Chemometrics, Institute of Chemistry, Federal University of Rio Grande do NorteLaboratory of Immunogenetics, Aggeu Magalhães Institute, Oswaldo Cruz FoundationDepartment of Immunology, Ribeirão Preto Medicine UniversityPostgraduate Program in Science Applied to Women’s Health, Federal University of Rio Grande do NorteAbstract Cervical cancer, a leading cancer among women, is strongly associated with Human Papillomavirus infection, but host genetic factors also contribute to the progression from high-grade squamous intraepithelial lesions (HSIL) to invasive cancer. Interleukin-10 (IL-10), an immunosuppressive cytokine, may influence susceptibility to HSIL and cervical cancer through genetic variations. This study aimed to compare IL-10 gene promoter polymorphisms, -1082 A > G and − 819T > C, in women diagnosed with HSIL or cervical cancer and those with negative for intraepithelial lesion or malignancy (NILM). In this case-control study, 309 women were analyzed, including 142 with HSIL or cervical cancer and 167 controls with NILM. Blood samples were collected for DNA extraction and genotyping of polymorphisms through PCR amplification. Statistical analyses included comparisons of genotype and allele frequencies, haplotype frequency, and assessments of Hardy-Weinberg equilibrium and linkage disequilibrium. The mean age was 33.4 years for cases and 41.7 years for controls (p < 0.05). For the − 1082 A > G polymorphism, the GG genotype was significantly associated with a decreased risk of HSIL and cervical cancer (p = 0.0266, OR = 0.35). Recessive model (GG vs. AA + AG) confirmed this association (p = 0.0045, OR = 0.29). AC/GC diplotype was associated with a 2-fold increased risk of cervical lesions. Further studies are needed to confirm our results.https://doi.org/10.1038/s41598-025-12851-5Interleukin-10Polymorphism, single nucleotideUterine cervical neoplasms
spellingShingle Amaxsell Thiago Barros de Souza
Deborah Luisa de Sousa Santos
Fernanda Silva Medeiros
Kleyton Thiago Costa de Carvalho
George Alexandre Lira
Ricardo Ney Cobucci
Kassio Michell Gomes de Lima
Norma Lucena-Silva
Eduardo Antônio Donadi
Janaina Cristiana de Oliveira Crispim
Comparison of IL-10 gene promoter polymorphisms and haplotypes between high-grade squamous intraepithelial lesions or cervical cancer and negative cervical cytology
Scientific Reports
Interleukin-10
Polymorphism, single nucleotide
Uterine cervical neoplasms
title Comparison of IL-10 gene promoter polymorphisms and haplotypes between high-grade squamous intraepithelial lesions or cervical cancer and negative cervical cytology
title_full Comparison of IL-10 gene promoter polymorphisms and haplotypes between high-grade squamous intraepithelial lesions or cervical cancer and negative cervical cytology
title_fullStr Comparison of IL-10 gene promoter polymorphisms and haplotypes between high-grade squamous intraepithelial lesions or cervical cancer and negative cervical cytology
title_full_unstemmed Comparison of IL-10 gene promoter polymorphisms and haplotypes between high-grade squamous intraepithelial lesions or cervical cancer and negative cervical cytology
title_short Comparison of IL-10 gene promoter polymorphisms and haplotypes between high-grade squamous intraepithelial lesions or cervical cancer and negative cervical cytology
title_sort comparison of il 10 gene promoter polymorphisms and haplotypes between high grade squamous intraepithelial lesions or cervical cancer and negative cervical cytology
topic Interleukin-10
Polymorphism, single nucleotide
Uterine cervical neoplasms
url https://doi.org/10.1038/s41598-025-12851-5
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