Significant Linkage Evidence for Interstitial Cystitis/Painful Bladder Syndrome on Chromosome 3

Area of Science:

• Genetics
• Urology
• Pelvic Pain Research

Background:

• Interstitial cystitis/painful bladder syndrome (IC/PBS) is a chronic condition characterized by pelvic pain and unknown etiology.
• A genetic component is suspected in the predisposition to IC/PBS.

Purpose of the Study:

• To perform a genetic linkage analysis to identify potential genetic factors contributing to IC/PBS.
• To investigate the hypothesis that familial cases of IC/PBS are more likely to have a genetic basis.

Main Methods:

• Utilized the Utah Population Database and electronic medical records to identify IC/PBS cases.
• Analyzed 13 high-risk pedigrees with a statistically significant excess of IC/PBS cases.
• Conducted parametric linkage analysis on DNA from affected individuals.

Main Results:

• Significant genome-wide linkage evidence for IC/PBS was identified on chromosome 3p13-p12.3 under a dominant model (maximum LOD 3.56).
• Two pedigrees showed nominal linkage in this region, with one highly informative pedigree yielding a LOD of 2.1.
• Suggestive linkage evidence was also observed on chromosomes 1, 4, 9, and 14.

Conclusions:

• This study provides evidence for genetic variants on chromosome 3, and potentially other chromosomes, contributing to IC/PBS predisposition.
• Further sequence analysis of affected individuals in identified pedigrees may elucidate specific genes involved in IC/PBS pathogenesis.