Evidence map›Paper›PMID 41713163›Full record

ArticleEBioMedicine2026

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

Joshua E Motelow, Ayan Malakar, Sarath Babu Krishna Murthy, Miguel Verbitsky, Atlas Kahn, Elicia Estrella, Wanqing Shao, Louis Kunkel, Madelyn Wiesenhahn, Jaimee Beckett and 11 more

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Article in EBioMedicine, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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0cells of the map it votes in
0citing papers in PubMed
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1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

21 authors.

Joshua E MotelowDivision of Critical Care and Hospital Medicine, Department of Pediatrics, Vagelos College of Physicians and Surgeons, Columbia University, New York, NY, USA.
Ayan MalakarDivision of Nephrology, Department of Medicine, Vagelos College of Physicians and Surgeons, Columbia University, New York, NY, USA; Department of Biomedical and Health Informatics (DBHi), Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Sarath Babu Krishna MurthyDivision of Nephrology, Department of Medicine, Vagelos College of Physicians and Surgeons, Columbia University, New York, NY, USA; Center for Precision Medicine and Genomics, Department of Medicine, Vagelos College of Physicians and Surgeons, Columbia University, New York, NY, USA.
Miguel VerbitskyDivision of Nephrology, Department of Medicine, Vagelos College of Physicians and Surgeons, Columbia University, New York, NY, USA.
Atlas KahnDivision of Nephrology, Department of Medicine, Vagelos College of Physicians and Surgeons, Columbia University, New York, NY, USA.
Elicia EstrellaDivision of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.
Wanqing ShaoChildren's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA, USA.
Louis KunkelDivision of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
Madelyn WiesenhahnDivision of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
Jaimee BeckettDivision of Nephrology, Department of Medicine, Vagelos College of Physicians and Surgeons, Columbia University, New York, NY, USA; Center for Precision Medicine and Genomics, Department of Medicine, Vagelos College of Physicians and Surgeons, Columbia University, New York, NY, USA.
Natasha HarrisDivision of Nephrology, Department of Medicine, Vagelos College of Physicians and Surgeons, Columbia University, New York, NY, USA; Center for Precision Medicine and Genomics, Department of Medicine, Vagelos College of Physicians and Surgeons, Columbia University, New York, NY, USA.
Richard LeeDepartment of Urology, Boston Children's Hospital, Boston, MA, USA; Department of Surgery, Harvard Medical School, Boston, MA, USA.
Rosalyn AdamDepartment of Urology, Boston Children's Hospital, Boston, MA, USA; Department of Surgery, Harvard Medical School, Boston, MA, USA.
Kamil E BarbourNational Institutes of Health, Bethesda, MD, USA.
Hakon HakonarsonDivision of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Yuan LuoDepartment of Preventive Medicine, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.
Chunhua WengDepartment of Biomedical Informatics, Columbia University, New York, NY, USA.
Cathy L MendelsohnDepartment of Urology, Columbia University Irving Medical Center, New York, NY, USA.
Krzysztof KirylukDivision of Nephrology, Department of Medicine, Vagelos College of Physicians and Surgeons, Columbia University, New York, NY, USA.
Ali G GharaviDivision of Nephrology, Department of Medicine, Vagelos College of Physicians and Surgeons, Columbia University, New York, NY, USA; Center for Precision Medicine and Genomics, Department of Medicine, Vagelos College of Physicians and Surgeons, Columbia University, New York, NY, USA.
Catherine A BrownsteinDivision of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA. Electronic address: catherine.brownstein@childrens.harvard.edu.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundInterstitial cystitis/bladder pain syndrome (IC/BPS) is a poorly understood and underdiagnosed syndrome of chronic bladder/pelvic pain with urinary frequency and urgency. Conflicting data exist regarding associated phenotypes, and little is known of its genetic aetiology.

methodsWe conducted a retrospective case-control analysis of electronic medical record (EMR) and retrospective case-control analysis of exome sequencing (ES) to identify phenotypes related to and rare variant risk factors for IC/BPS. Retrospective EMR data were collected from a national network of research sites in eMERGE-III. ES data were acquired from two research cohorts of individuals with IC/BPS and family members in addition to unaffected individuals stored at Columbia University Irving Medical Center. We determined odds ratios and P values for phenotypes associated with IC/BPS in eMERGE, odds ratios and P values for genes and gene-sets enriched for rare damaging variants in individuals with IC/BPS, and P values indicating overlap of genes enriched with rare damaging variants in individuals with IC/BPS with canonical gene sets.

findingsUsing the eMERGE data, we compared 193 individuals with IC/BPS to 99,482 individuals without and confirmed known phenotypic associations such as gastroesophageal reflux disease (odds ratio [OR] 2.3, P = 1.6 × 10

interpretationIndividuals with IC/BPS should be screened for related phenotypes, and previously unreported phenotypic associations with IC/BPS. Perturbations in biological networks for epithelial integrity and cell cycle progression in IC/BPS pathogenesis provide a roadmap for its future investigation.

fundingThis publication was supported by the Centers for Disease Control and Prevention of the U.S. Department of Health and Human Services (HHS) as part of a financial assistance award totaling $2,400,000 with 60 percent funding from the CDC/HHS (U01DP006634-01). The contents are those of the author(s) and do not necessarily represent the official views of, nor are they endorsed by, the CDC/HHS or the U.S. Government (CAB). National Institutes of Health grant 1K08HG012374 (JEM). New York-Presbyterian Samberg Scholar (JEM). Thrasher Early Career Research Award (JEM). NIH/NIDDK CAIRIBU Interactions Core U24-DK-127726 (CAB). NICHD Boston Children's Hospital Intellectual and Developmental Disabilities Research Center Molecular Genetics Core Facility U54HD090255. NIDDK George M. O'Brien Urology Cooperative Research Centers Program U54DK104309 (AGG). The eMERGE Network was initiated and funded by NHGRI through the following grants: Phase III: U01HG8657 (Group Health Cooperative/University of Washington); U01HG8685 (Brigham and Women's Hospital); U01HG8672 (Vanderbilt University Medical Center); U01HG8666 (Cincinnati Children's Hospital Medical Center); U01HG6379 (Mayo Clinic); U01HG8679 (Geisinger Clinic); U01HG8680 (Columbia University Health Sciences); U01HG8684 (Children's Hospital of Philadelphia); U01HG8673 (Northwestern University); U01HG8701 (Vanderbilt University Medical Center serving as the Coordinating Center); U01HG8676 (Partners Healthcare/Broad Institute); and U01HG8664 (Baylor College of Medicine).

Indexed as

Cystitis, InterstitialExome SequencingGenetic VariationPhenotypeAdultAgedCase-Control StudiesExomeFemaleGenetic Association StudiesGenetic Predisposition to DiseaseHumansMaleMiddle AgedOdds RatioRetrospective StudiesBladder painEpithelial biologyExome sequencingInterstitial cystitisPhenome-wide associationRare variants

Identifiers

PMID41713163
PMCPMC12933612

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.