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Published on: November 30, 2016
Exploring the Genetic Link between Irritable Bowel Syndrome and Polycystic Ovary Syndrome: Bidirectional Mendelian
Ziwei Gao1, Zhenglin Mei2, Yujun Zhang2
1Department of Gastroenterology, Hangzhou TCM Hospital of Zhejiang Chinese Medical University (Hangzhou Hospital of Traditional Chinese Medicine), Hangzhou, Zhejiang Province, China.
Polycystic ovary syndrome (PCOS) causally impacts irritable bowel syndrome (IBS), but not vice-versa. Genes CD14 and CASP1 may serve as shared diagnostic markers for both conditions, offering insights into their biological links.
Area of Science:
- Endocrinology
- Gastroenterology
- Genetics
Background:
- Polycystic ovary syndrome (PCOS) and irritable bowel syndrome (IBS) exhibit a known correlation.
- The precise directionality and biological mechanisms underlying this association require elucidation.
Purpose of the Study:
- To investigate the causal relationship between PCOS and IBS.
- To identify shared biological pathways and potential diagnostic biomarkers for both disorders.
Main Methods:
- Bidirectional Mendelian randomization (MR) analysis was employed to assess causality.
- Bioinformatic approaches, including gene enrichment and protein-protein interaction network analysis, were utilized.
- Machine learning algorithms (LASSO, SVM) and ROC analysis identified diagnostic markers.
- Single-sample gene set enrichment analysis (ssGSEA) evaluated immune cell infiltration.
Main Results:
- MR analysis revealed a significant causal effect of PCOS on IBS (OR = 1.034, P = 0.029).
- No significant causal link was found from IBS to PCOS.
- CD14 and CASP1 were identified as key diagnostic biomarkers for both conditions, associated with immune cell infiltration.
Conclusions:
- A significant positive causal relationship exists from PCOS to IBS.
- The identified genes CD14 and CASP1 represent potential shared diagnostic markers.
- Findings contribute to understanding the interplay between PCOS and IBS.
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