Program in Genomics
Interstitial cystitis (IC) is a chronic, debilitating clinical syndrome presenting as urinary urgency, frequency, and/or pelvic pain in the absence of any known cause. The etiologic mechanisms underlying IC are poorly understood and although epithelial dysfunction, abnormal mast cell activity, and nerve damage have all been implicated in IC, the importance of each of these factors has not been delineated and is still in dispute.
An important hypothesis obtained directly from our preliminary data is that there is linkage between DNA polymorphic markers and interstitial cystitis (IC) in a select subset of families from an endogamous population of Bulgaria with a high prevalence of IC. By examining the extent of DNA shared on disease chromosomes in this unique cohort, we will be able to infer a set of mutations that will provide tools for the effective diagnosis and treatment of IC. Thererefore, the aims of this study are to (1) Collect DNA samples and medical/family history data from multigenerational families from the United States and Bulgaria; (2) Perform high density linkage analysis in the most informative pedigrees to establish genetic linkage between the IC phenotype and DNA polymorphic markers; and (3) Identify and verify any positional candidate genes by direct sequencing.