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

ABSTRACT: Interstitial cystitis/bladder pain syndrome (IC/BPS) is a poorly understood and underdiagnosed syndrome of chronic bladder/pelvic pain with urinary frequency and urgency. Though IC/BPS can be hereditary, little is known of its genetic etiology. Using the eMERGE data, we confirmed known phenotypic associations such as gastroesophageal reflux disease and irritable bowel syndrome and detected new associations, including osteoarthrosis/osteoarthritis and Barrett's esophagus. An exome wide ultra-rare variants analysis in 348 IC/BPS and 11,981 controls extended the previously reported association with ATP2C1 and ATP2A2, implicated in Mendelian desquamating skin disorders, but did not provide evidence for other previously proposed pathogenic pathways such as bladder development, noc

SUBMITTER: Motelow JE 

PROVIDER: S-EPMC11875234 | biostudies-literature | 2025 Feb

REPOSITORIES: biostudies-literature