Comparative transcriptomic, epigenomic and immunological analyses identify drivers of disparity in high-grade serous ovarian cancer

Abstract Black women face the highest mortality-to-incidence ratio from high grade serous ovarian cancer (HGSOC). This study investigated biological differences in HGSOC tumors from Black vs. White women. HGSOC from 35 Black and 31 White patients were analyzed by Infinium Methyation-EPIC array and R...

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Main Authors: Hao Huang, Russel Keathley, Ujin Kim, Horacio Cardenas, Ping Xie, Jianjun Wei, Ernst Lengyel, Kenneth P. Nephew, Guangyuan Zhao, Zhen Fu, Emma L. Barber, Masha Kocherginsky, Victoria Bae-Jump, Bin Zhang, Daniela Matei
Format: Article
Language:English
Published: Nature Portfolio 2024-12-01
Series:npj Genomic Medicine
Online Access:https://doi.org/10.1038/s41525-024-00448-2
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author Hao Huang
Russel Keathley
Ujin Kim
Horacio Cardenas
Ping Xie
Jianjun Wei
Ernst Lengyel
Kenneth P. Nephew
Guangyuan Zhao
Zhen Fu
Emma L. Barber
Masha Kocherginsky
Victoria Bae-Jump
Bin Zhang
Daniela Matei
author_facet Hao Huang
Russel Keathley
Ujin Kim
Horacio Cardenas
Ping Xie
Jianjun Wei
Ernst Lengyel
Kenneth P. Nephew
Guangyuan Zhao
Zhen Fu
Emma L. Barber
Masha Kocherginsky
Victoria Bae-Jump
Bin Zhang
Daniela Matei
author_sort Hao Huang
collection DOAJ
description Abstract Black women face the highest mortality-to-incidence ratio from high grade serous ovarian cancer (HGSOC). This study investigated biological differences in HGSOC tumors from Black vs. White women. HGSOC from 35 Black and 31 White patients were analyzed by Infinium Methyation-EPIC array and RNA sequencing. 191 CpG sites were differentially methylated (FDR < 0.05, β value change> 10%) and 277 genes were differentially expressed (FDR < 0.05). Gene Ontology identified enriched pathways related to DNA damage response, p53/apoptosis signaling, and cholesterol/lipid metabolism directly connected with genes like INSR, FOXA1 and FOXB1. INSR and FOXA1 knockdown enhanced cisplatin sensitivity and inhibited cell proliferation and colony formation. Tumors from Black patients were infiltrated by fewer CD4+ naïve and regulatory T-cells. Overall, differences in DNA methylation, transcriptomic profiles and immune cell infiltration were detected in tumors from Black vs. White patients. Further investigation is warranted into how these differences may affect treatment response and outcomes in Black women.
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spelling doaj-art-05816bb8f6904172a983bc21bd99b3ec2025-08-20T02:20:48ZengNature Portfolionpj Genomic Medicine2056-79442024-12-019111310.1038/s41525-024-00448-2Comparative transcriptomic, epigenomic and immunological analyses identify drivers of disparity in high-grade serous ovarian cancerHao Huang0Russel Keathley1Ujin Kim2Horacio Cardenas3Ping Xie4Jianjun Wei5Ernst Lengyel6Kenneth P. Nephew7Guangyuan Zhao8Zhen Fu9Emma L. Barber10Masha Kocherginsky11Victoria Bae-Jump12Bin Zhang13Daniela Matei14Department of Obstetrics and Gynecology, Feinberg School of Medicine, Northwestern UniversityDepartment of Obstetrics and Gynecology, Feinberg School of Medicine, Northwestern UniversityDepartment of Obstetrics and Gynecology, Feinberg School of Medicine, Northwestern UniversityDepartment of Obstetrics and Gynecology, Feinberg School of Medicine, Northwestern UniversityDepartment of Medicine; Hematology/Oncology Division, Feinberg School of Medicine, Northwestern UniversityDepartment of Pathology, Feinberg School of Medicine, Northwestern UniversityDepartment of Obstetrics and Gynecology/Section of Gynecologic Oncology, University of ChicagoSchool of Medicine, Indiana UniversityDepartment of Obstetrics and Gynecology, Feinberg School of Medicine, Northwestern UniversityBioinformatics and Biostatistics Core, Van Andel InstituteDepartment of Obstetrics and Gynecology, Feinberg School of Medicine, Northwestern UniversityDepartment of Preventive Medicine (Biostatistics), Feinberg School of Medicine, Northwestern UniversityDivision of Gynecologic Oncology, University of North CarolinaDepartment of Medicine; Hematology/Oncology Division, Feinberg School of Medicine, Northwestern UniversityDepartment of Obstetrics and Gynecology, Feinberg School of Medicine, Northwestern UniversityAbstract Black women face the highest mortality-to-incidence ratio from high grade serous ovarian cancer (HGSOC). This study investigated biological differences in HGSOC tumors from Black vs. White women. HGSOC from 35 Black and 31 White patients were analyzed by Infinium Methyation-EPIC array and RNA sequencing. 191 CpG sites were differentially methylated (FDR < 0.05, β value change> 10%) and 277 genes were differentially expressed (FDR < 0.05). Gene Ontology identified enriched pathways related to DNA damage response, p53/apoptosis signaling, and cholesterol/lipid metabolism directly connected with genes like INSR, FOXA1 and FOXB1. INSR and FOXA1 knockdown enhanced cisplatin sensitivity and inhibited cell proliferation and colony formation. Tumors from Black patients were infiltrated by fewer CD4+ naïve and regulatory T-cells. Overall, differences in DNA methylation, transcriptomic profiles and immune cell infiltration were detected in tumors from Black vs. White patients. Further investigation is warranted into how these differences may affect treatment response and outcomes in Black women.https://doi.org/10.1038/s41525-024-00448-2
spellingShingle Hao Huang
Russel Keathley
Ujin Kim
Horacio Cardenas
Ping Xie
Jianjun Wei
Ernst Lengyel
Kenneth P. Nephew
Guangyuan Zhao
Zhen Fu
Emma L. Barber
Masha Kocherginsky
Victoria Bae-Jump
Bin Zhang
Daniela Matei
Comparative transcriptomic, epigenomic and immunological analyses identify drivers of disparity in high-grade serous ovarian cancer
npj Genomic Medicine
title Comparative transcriptomic, epigenomic and immunological analyses identify drivers of disparity in high-grade serous ovarian cancer
title_full Comparative transcriptomic, epigenomic and immunological analyses identify drivers of disparity in high-grade serous ovarian cancer
title_fullStr Comparative transcriptomic, epigenomic and immunological analyses identify drivers of disparity in high-grade serous ovarian cancer
title_full_unstemmed Comparative transcriptomic, epigenomic and immunological analyses identify drivers of disparity in high-grade serous ovarian cancer
title_short Comparative transcriptomic, epigenomic and immunological analyses identify drivers of disparity in high-grade serous ovarian cancer
title_sort comparative transcriptomic epigenomic and immunological analyses identify drivers of disparity in high grade serous ovarian cancer
url https://doi.org/10.1038/s41525-024-00448-2
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