University of Utah Pelvic Organ Prolapse Disorder Study

The overall purpose of this University of Utah Pelvic Organ Prolapse Disorder Study was to identify and localize predisposition genes contributing to pelvic organ prolapse (POP). POP cases recruited for this study were identified by one of three methods: high-risk POP pedigree cases, POP sister pairs, and surgically-treated POP cases reporting a family history of POP. High-risk POP pedigree cases were identified using the Utah Population Database (UPDB), a genealogy database of residents in Utah that has been linked to diagnostic ICD9 and CPT codes in medical records at the University of Utah and Intermountain Healthcare. We identified families with a significant excess number of POP cases compared to matched population rates and targeted these individuals for recruitment as well as any other POP cases in the family. POP sister pair cases were identified at the University of Utah Urogyncology clinic for women who had undergone POP surgery and also self-reported one or more sisters who were also surgically treated for POP. POP affection status of all sisters was confirmed either by physical examination or by chart review. Surgically treated-POP cases reporting a family history of POP were identified at the University of Utah Urogyncology clinic by self-report of a family history of POP. Efforts were made to recruit other affected family members and confirm affection status. To obtain DNA, subjects provided either a blood specimen or saliva. Medical records were reviewed by a urogynecologist and diagnostic information for pelvic organ prolapse and stress and overactive bladder were obtained. Collected DNA was genotyped and analyzed. To maintain confidentiality of the familial data, genetic data from only one subject per family has been submitted to dbGaP. Use of the University of Utah Pelvic Organ Prolapse Disorder Study data is limited to investigators studying pelvic floor disorders. These pelvic floor disorders include pelvic organ prolapse, urinary and anal incontinence, and other conditions related to weakening or injury to the muscles and connective tissue in the pelvis as a result of pelvic surgery, pregnancy, or vaginal delivery of a child. These data will be used only for research purposes related to pelvic floor disorders. They will not be used to determine the individual identity of any person or their relationship to another person or for research on non-disease traits.]]>
Inclusion: High-risk POP pedigree cases were originally identified based on the presence of an ICD9 and/or CPT code indicating POP. Individuals were clustered into pedigrees, and those pedigrees with a statistical excess number of POP cases were considered high-risk POP pedigrees. A chart review was performed to confirm POP status for affected, high-risk pedigree members. High-risk pedigree members with a confirmed POP diagnosis were targeted for recruitment. POP sister pair cases were identified at the University of Utah Urogyncology clinic who had undergone POP surgery and who also self-reported one or more sisters who had also undergone POP surgery. POP affection status of all sisters was confirmed by either physical examination or review of medical records. Sisters were recruited when there were at least two confirmed surgically treated POP cases in the family. Surgically treated POP cases reporting a family history of POP were identified at the University of Utah Urogyncology clinic by self-report of a family history of POP. Case status of the proband was confirmed prior to recruitment. Efforts were made to recruit other affected family members and confirm their affection status. Relevant ICD-9 codes for pelvic organ prolapse (POP) Primary: 618.0general pelvic wall prolapse 618.01cystocele (midline) 618.02cystocele (lateral) 618.04rectocele 618.05perineocele 618.1uterine prolapse (without other prolapse) 618.2uterovaginal prolapse (incomplete) 618.3uterovaginal prolapse (complete) 618.5vaginal vault prolapse post-hysterectomy 618.6vaginal enterocele 618.89pelvic prolapse or perineal prolapse, fairly unspecified Relevant CPT codes for pelvic organ prolapse (POP) Primary: 57120colpocleisis 57160pessary 57240anterior colporrhaphy 57250posterior colporrhaphy 57260combined anterior and posterior colporrhaphy 57265combined anterior and posterior colporrhaphy, with vaginal repair of enterocele 57268vaginal repair of enterocele 57270abdominal repair of enterocele 57280abdominal repair of vaginal vault prolapse (abdominal sacrocolpopexy) 57282vaginal repair of vaginal vault prolapse (extraperitoneal approach) 57283vaginal repair of vaginal vault prolapse (intraperitoneal approach) 57284paravaginal repair (for lateral cystocele) Exclusion: None]]>
Urogynecologist, Dr. Peggy Norton, originally hypothesized that pelvic organ prolapse had a genetic component. Dr. Norton obtained RO1 funding to begin phenotyping women with pelvic floor disorders in 2002 in order to establish the familiality of PFDs and to look for evidence of linkage using sibpair linkage analysis. The work was delayed when the genetics co-investigator left the University of Utah. Genetic Epidemiologists, Drs. Cannon-Albright and Allen-Brady joined the research team in 2006 and 2007, respectively. A joint RO1 grant between Drs. Norton and Cannon-Albright was submitted and funded in 2009. Recruitment of high-risk POP pedigrees began as did recruitment of surgically treated POP cases with a self-report of a family history of POP.]]>