Linkage Analysis in Interstitial Cystitis
| Status: | Completed |
|---|---|
| Conditions: | Chronic Pain, Overactive Bladder, Psychiatric, Women's Studies, Pain, Urology |
| Therapuetic Areas: | Gastroenterology, Musculoskeletal, Nephrology / Urology, Psychiatry / Psychology, Reproductive |
| Healthy: | No |
| Age Range: | 3 - 80 |
| Updated: | 2/4/2017 |
| Start Date: | January 2006 |
| End Date: | June 2011 |
Genetic Studies of Urologic Chronic Pelvic Pain Syndrome
Urologic pelvic pain syndrome (UCPPS), variably termed painful bladder syndrome/interstitial
cystitis (PBS/IC) in females and chronic prostatitis/chronic pelvic pain syndrome in men
(CP/CPPS), is a chronic, debilitating clinical syndrome presenting as severe pelvic pain
with extreme urinary urgency and frequency in the absence of any known cause. The etiologic
mechanisms underlying UCPPS are unknown, but recurrence, risks to siblings of affected
individuals, concordance among monozygotic twins, and our own preliminary studies indicate a
strong genetic contribution to the cause of UCPPS. The overall goal of this proposal is use
novel approaches to understand the basis of UCPPS, to identify candidate genes containing
mutations that result in UCPPS and determine how the different encoded proteins of these
genes interact with one another in a common biological pathway. Ultimately, understanding
how mutations in at least five different genes yield the symptoms of UCPPS should lead to
improved diagnosis and possible therapies.
cystitis (PBS/IC) in females and chronic prostatitis/chronic pelvic pain syndrome in men
(CP/CPPS), is a chronic, debilitating clinical syndrome presenting as severe pelvic pain
with extreme urinary urgency and frequency in the absence of any known cause. The etiologic
mechanisms underlying UCPPS are unknown, but recurrence, risks to siblings of affected
individuals, concordance among monozygotic twins, and our own preliminary studies indicate a
strong genetic contribution to the cause of UCPPS. The overall goal of this proposal is use
novel approaches to understand the basis of UCPPS, to identify candidate genes containing
mutations that result in UCPPS and determine how the different encoded proteins of these
genes interact with one another in a common biological pathway. Ultimately, understanding
how mutations in at least five different genes yield the symptoms of UCPPS should lead to
improved diagnosis and possible therapies.
Inclusion Criteria:
- Have symptoms for at least 3 months within the preceding 6 months:
- Pain in the pelvic area
- Urinary frequency and/or
- Urinary urgency and/or
- Sexual dysfunction (erectile dysfunction)
- Have CP/CPPS, IC, PBS, or BFS
- Be willing to provide a saliva and urine sample
- Agree to complete several brief questionnaires
- Family of someone with CP/CPPS, PBS, IC or BFS
- Live in the USA or Canada
Exclusion Criteria:
- Major structural/anatomical urinary tract abnormalities
- Underlying inborn or congenital conditions
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