Genetic links between endometriosis and cancers in women

PeerJ

article

Salma Begum Bhyan¹  Li Zhao²  YongKiat Wee¹  Yining Liu³  Min Zhao¹ 

[1]School of Science and Engineering, University of the Sunshine Coast

[2]Dongguan Women and Children’s Hospital

[3]The School of Public Health, Institute for Chemical Carcinogenesis, Guangzhou Medical University

关键词: Endometriosis;    Infertility;    Estrogen;    Progesterone;    Early diagnosis;    Cancer progression;    Hormone stimulating;    Genes;    DEGs;   

DOI  :  10.7717/peerj.8135

学科分类：社会科学、人文和艺术（综合）

来源: Inra

【 摘 要 】

Endometriosis is a chronic disease occurring during the reproductive stage of women. Although there is only limited association between endometriosis and gynecological cancers with regard to clinical features, the molecular basis of the relationship between these diseases is unexplored. We conducted a systematic study by integrating literature-based evidence, gene expression and large-scale cancer genomics data in order to reveal any genetic relationships between endometriosis and cancers in women. We curated 984 endometriosis-related genes from 3270 PubMed articles and then conducted a meta-analysis of the two public gene expression profiles related to endometriosis which identified Differential Expression of Genes (DEGs). Following an overlapping analysis, we identified 39 key endometriosis-related genes common in both literature and DEG analysis. Finally, the functional analysis confirmed that all the 39 genes were associated with the vital processes of tumour formation and cancer progression and that two genes (PGR and ESR1) were common to four cancers of women. From network analysis, we identified a novel linker gene, C3AR1, which had not been implicated previously in endometriosis. The shared genetic mechanisms of endometriosis and cancers in women identified in this study provided possible new avenues of multiple disease management and treatments through early diagnosis.

【 授权许可】

CC BY