Objective: Genetic studies require a clearly defined phenotype to reach valid conclusions. Our aim was to characterize the phenotype of advanced prolapse by comparing women with stage III to IV prolapse with controls without prolapse.
Methods: Based on the pelvic organ prolapse quantification examination, women with stage 0 to stage I prolapse (controls) and those with stage III to stage IV prolapse (cases) were prospectively recruited as part of a genetic epidemiologic study. Data regarding sociodemographics; medical, obstetric, and surgical history; family history; and body mass index were obtained by a questionnaire administered by a trained coordinator and abstracted from electronic medical records.
Results: There were 275 case patients with advanced prolapse and 206 controls with stage 0 to stage I prolapse. Based on our recruitment strategy, the women were younger than the controls (64.7±10.1 vs 68.6±10.4 years; P<0.001); cases were also more likely to have had one or more vaginal deliveries (96.0% vs 82.0%; P<0.001). There were no differences in race, body mass index, and constipation. Regarding family history, cases were more likely to report that either their mother and/or sister(s) had prolapse (44.8% vs 16.9%, P<0.001). In a logistic regression model, vaginal parity (odds ratio, 4.05; 95% confidence interval, 1.67–9.85) and family history of prolapse (odds ratio, 3.74; 95% confidence interval, 2.16–6.46) remained significantly associated with advanced prolapse.
Conclusions: Vaginal parity and a family history of prolapse are more common in women with advanced prolapse compared to those without prolapse. These characteristics are important in phenotyping advanced prolapse, suggesting that these data should be collected in future genetic epidemiologic studies.
Vaginal parity and a family history of prolapse are more common in women with advanced prolapse compared to those without prolapse, suggesting that these characteristics may be important in phenotyping advanced prolapse.
From the *Division of Urogynecology, Department of Obstetrics and Gynecology, †Center for Human Genetics, and ‡Division of Cardiology, Department of Medicine, Duke University, Durham, NC.
Reprints: Jennifer M. Wu, MD, MPH, Duke University Medical Center, Box 3192, 5324 McFarland Ave, Suite 310, Durham, NC 27707. E-mail: firstname.lastname@example.org.
Dr Wu is supported by K23HD068404, Eunice Kennedy Shriver National Institute of Child Health and Human Development. All the other authors declare that they have nothing to disclose.
Research was supported by R03HD061766, Eunice Kennedy Shriver National Institute of Child Health and Human Development.