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Interstitial Cystitis: a phenotype and rare variant exome sequencing study: Interstitial Cystitis: a phenotype and

Joshua E Motelow¹, Ayan Malakar^2,3, Sarath Babu Krishna Murthy^2,3

¹Division of Critical Care and Hospital Medicine, Department of Pediatrics, Vagelos College of Physicians & Surgeons, Columbia University, New York, NY.

Medrxiv : the Preprint Server for Health Sciences

|March 4, 2025

Summary

Interstitial cystitis/bladder pain syndrome (IC/BPS) involves chronic pelvic pain and urinary issues. Genetic analysis suggests links to epithelial integrity and cell cycle pathways, offering new research directions for this complex condition.

Area of Science:

Genetics
Urology
Pathophysiology

Background:

Interstitial cystitis/bladder pain syndrome (IC/BPS) is a chronic condition characterized by pelvic pain and urinary urgency/frequency.
Its genetic underpinnings remain largely unknown, despite potential hereditary components.

Purpose of the Study:

To investigate the genetic etiology of IC/BPS.
To identify novel phenotypic and genetic associations with IC/BPS.

Main Methods:

Utilized the eMERGE network data for phenotypic association analysis.
Conducted an exome-wide ultra-rare variant analysis comparing 348 IC/BPS patients with 11,981 controls.
Performed pathway analysis on genetic data.

Main Results:

Confirmed known associations (GERD, IBS) and identified new ones (osteoarthritis, Barrett's esophagus).
Extended the association with ATP2C1 and ATP2A2 genes but found no evidence for pathways related to bladder development, nociception, or inflammation.
Pathway analysis revealed associations with "anaphase-promoting complex-dependent catabolic process," "regulation of MAPK cascade," and "integrin binding."

Conclusions:

Findings suggest IC/BPS pathogenesis involves disruptions in epithelial integrity and cell cycle progression.
These results provide a foundation for future research into the biological networks implicated in IC/BPS.

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