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Related Experiment Video

Updated: Feb 21, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

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Published on: April 4, 2018

Interstitial cystitis: a phenotype and rare variant exome sequencing study.

Joshua E Motelow¹, Ayan Malakar², Sarath Babu Krishna Murthy³

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

|February 19, 2026

Summary

Interstitial cystitis/bladder pain syndrome (IC/BPS) is linked to various conditions like IBS and allergies. Genetic analysis did not reveal significant risk factors, but pathway analysis suggests issues with cell cycle and epithelial integrity.

Keywords:

Bladder pain Epithelial biology Exome sequencing Interstitial cystitis Phenome-wide association Rare variants

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Area of Science:

Urology
Genetics
Internal Medicine

Background:

Interstitial cystitis/bladder pain syndrome (IC/BPS) is a chronic condition characterized by bladder/pelvic pain, urinary frequency, and urgency.
The etiology and associated phenotypes of IC/BPS remain poorly understood, with limited knowledge regarding its genetic basis.
Existing data on IC/BPS phenotypes are conflicting, necessitating further investigation into potential contributing factors.

Purpose of the Study:

To identify phenotypes associated with IC/BPS using electronic medical record (EMR) data.
To uncover rare variant risk factors for IC/BPS through exome sequencing (ES).
To explore the genetic underpinnings and phenotypic landscape of IC/BPS.

Main Methods:

Retrospective case-control analysis of EMR data from the eMERGE-III network.
Exome sequencing (ES) analysis of IC/BPS cohorts and unaffected individuals.
Statistical analysis including odds ratios, P values, and gene-set enrichment analysis.

Main Results:

Confirmed known IC/BPS associations (e.g., gastroesophageal reflux disease, irritable bowel syndrome).
Identified novel phenotypic associations, including anaphylactic shock, intervertebral disc disorders, and hypermobility syndrome.
Exome sequencing revealed no significant gene-level associations, but pathway analysis implicated "anaphase-promoting complex-dependent catabolic process," "regulation of MAPK cascade," and "integrin binding."

Conclusions:

Individuals with IC/BPS should be screened for identified associated phenotypes.
Previously unreported phenotypic associations with IC/BPS were detected.
Disruptions in biological networks related to epithelial integrity and cell cycle progression are implicated in IC/BPS pathogenesis.