Bioinformatical enrichment analysis of genes involved in the pathway of endometriosis disease

Abstract

Endometriosis, is a gynecological disease, where uterine (eutopic) endometrial glands and tissues are present outside the intra-uterine locations, ectopic regions (pelvic peritoneum, fallopian tubes or ovaries). About 5-10% reproductive and 20-50% infertile women have endometriosis. Several factors like hormonal, environmental, genetic and immune system are involved in the pathogenesis of endometriosis both directly or indirectly altering the estrogen level and thus affecting the reproductive health of women. Current study was done with an aim to identify novel and potential biomarker for endometriosis using mRNA seq analysis. From raw gene expression profiles differentially expressed genes (DEGs) were identified and further their functional analysis was conducted. A total of 552 (312 up and 240 downregulated) DEG’s were identified in samples from endometriosis suffering women when compared with control subjects. Major DEGs forming hubnodes like C3, PSAP, APP, GNG12 were found to be involved in various functions such as, epithelia cell differentiation and development, proteolysis, gland development, muscle fiber development, response to hormone stimulus. The identified DEGs can be directly or indirectly involved in the pathway of pathogenesis of endometriosis and can act as a potential biomarker for ectopic endometrium. Current study will provide a preliminary insight into the mechanism of endometriosis disease; however, it will require further detailed studies for its complete path of action.

Competing Interest Statement

The authors have declared no competing interest.

Funding Statement

This study did not receive any funding

Author Declarations

I confirm all relevant ethical guidelines have been followed, and any necessary IRB and/or ethics committee approvals have been obtained.

Yes

The details of the IRB/oversight body that provided approval or exemption for the research described are given below:

From the National Center of Biotechnology Information (NCBI) Gene Expression Omnibus (GEO) database (http://www. ncbi.nlm.nih.gov/geo/), the raw gene expression profile datasets (ID: GSE7305) were obtained for this study.

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Yes

I understand that all clinical trials and any other prospective interventional studies must be registered with an ICMJE-approved registry, such as ClinicalTrials.gov. I confirm that any such study reported in the manuscript has been registered and the trial registration ID is provided (note: if posting a prospective study registered retrospectively, please provide a statement in the trial ID field explaining why the study was not registered in advance).

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I have followed all appropriate research reporting guidelines, such as any relevant EQUATOR Network research reporting checklist(s) and other pertinent material, if applicable.

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Data Availability

All data produced in the present work are contained in the manuscript

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