Finding Ancestry-Associated Genes Among Black Women Diagnosed with High Grade Serous Ovarian Cancer (HGSOC) Open Access

Abstract

Although the incidence of epithelial ovarian cancer (EOC) is lower among Black women compared to White women, Black women diagnosed with EOC experience poorer prognoses and overall survival (OS). While social determinants and unequal access to care partly explain these disparities, biological factors may also contribute. This study aimed to identify ancestry-associated differential gene expression in ovarian tumors of Black women to explore potential differences in the tumor microenvironment influencing outcomes. Our study sample included 211 Black women with the high-grade serous carcinoma (HGSC) subtype of EOC enrolled in the African American Cancer Epidemiology Study (AACES) and the North Carolina Ovarian Cancer Study (NCOCS). Risk factor and tumor characteristic data were collected through surveys and pathology reports. RNA sequencing (RNA-Seq) assessed expression of 18,699 genes, and RFMIX estimated global and subcontinental ancestry proportions, including African, European, Asian, and West African ancestries. We found that the downregulation of the gene SNX27 was significantly associated with higher African ancestry proportions (p = 2.90 × 10⁻⁶), below the Bonferroni-adjusted threshold (p < 5.35 × 10⁻⁶). Significant differential expression by BMI (≥40 kg/m² vs. <30 kg/m²) was observed for FOXD4L5, TMEM106B, GDF10, and G3BP1P1, with FOXD4L5 also differing by type 2 diabetes status.

Several differentially expressed genes linked to African ancestry were associated with immune evasion, enhanced tumor cell migration, and proliferation, suggesting that ancestry-related biological factors may contribute to worse EOC outcomes among Black women.

Table of Contents

Abstract 4

Background 6

Methods 13

Results 19

Discussion/Conclusion 36

References 52

About this Master's Thesis

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School	Rollins School of Public Health
Department	Epidemiology
Subfield / Discipline	Epidemiology - MPH & MSPH
Degree	M.P.H.
Submission	Master's Thesis
Language	English
Research Field	Health Sciences, Epidemiology
Keyword	cancer prognosis survival disparity tumor microenvironment gene expression ancestry epithelial ovarian cancer (EOC) ovarian cancer
Committee Chair / Thesis Advisor	Schildkraut, Joellen, Emory University

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