Dataset Information

Systematic review and metaanalysis of genetic association studies of urinary symptoms and prolapse in women.

ABSTRACT:

Objective

Family studies and twin studies demonstrate that lower urinary tract symptoms and pelvic organ prolapse are heritable. This review aimed to identify genetic polymorphisms tested for an association with lower urinary tract symptoms or prolapse, and to assess the strength, consistency, and risk of bias among reported associations.

Study design

PubMed and HuGE Navigator were searched up to May 1, 2014, using a combination of genetic and phenotype key words, including "nocturia," "incontinence," "overactive bladder," "prolapse," and "enuresis." Major genetics, urology, and gynecology conference abstracts were searched from 2005 through 2013. We screened 889 abstracts, and retrieved 78 full texts. In all, 27 published and 7 unpublished studies provided data on polymorphisms in or near 32 different genes. Fixed and random effects metaanalyses were conducted using codominant models of inheritance. We assessed the credibility of pooled associations using the interim Venice criteria.

Results

In pooled analysis, the rs4994 polymorphism of the ADRB3 gene was associated with overactive bladder (odds ratio [OR], 2.5; 95% confidence interval [CI], 1.7-3.6; n = 419). The rs1800012 polymorphism of the COL1A1 gene was associated with prolapse (OR, 1.3; 95% CI, 1.0-1.7; n = 838) and stress urinary incontinence (OR, 2.1; 95% CI, 1.4-3.2; n = 190). Other metaanalyses, including those for polymorphisms of COL3A1,LAMC1,MMP1,MMP3, and MMP9 did not show significant effects. Many studies were at high risk of bias from genotyping error or population stratification.

Conclusion

These metaanalyses provide moderate epidemiological credibility for associations of variation in ADRB3 with overactive bladder, and variation of COL1A1 with prolapse. Clinical testing for any of these polymorphisms cannot be recommended based on current evidence.

SUBMITTER: Cartwright R

PROVIDER: S-EPMC4342521 | biostudies-literature | 2015 Feb

REPOSITORIES: biostudies-literature

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Publications

Systematic review and metaanalysis of genetic association studies of urinary symptoms and prolapse in women.

Cartwright Rufus R Kirby Anna C AC Tikkinen Kari A O KA Mangera Altaf A Thiagamoorthy Gans G Rajan Prabhakar P Pesonen Jori J Ambrose Chris C Gonzalez-Maffe Juan J Bennett Phillip P Palmer Tom T Walley Andrew A Järvelin Marjo-Riitta MR Chapple Chris C Khullar Vik V

American journal of obstetrics and gynecology 20140808 2

<h4>Objective</h4>Family studies and twin studies demonstrate that lower urinary tract symptoms and pelvic organ prolapse are heritable. This review aimed to identify genetic polymorphisms tested for an association with lower urinary tract symptoms or prolapse, and to assess the strength, consistency, and risk of bias among reported associations.<h4>Study design</h4>PubMed and HuGE Navigator were searched up to May 1, 2014, using a combination of genetic and phenotype key words, including "noctu ...[more]

PMID: 25111588

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Project description:ContextAlthough family studies have shown that male lower urinary tract symptoms (LUTS) are highly heritable, no systematic review exists of genetic polymorphisms tested for association with LUTS.ObjectiveTo systematically review and meta-analyze studies assessing candidate polymorphisms/genes tested for an association with LUTS, and to assess the strength, consistency, and potential for bias among pooled associations.Evidence acquisitionA systematic search of the PubMed and HuGE databases as well as abstracts of major urologic meetings was performed through to January 2013. Case-control studies reporting genetic associations in men with LUTS were included. Reviewers independently and in duplicate screened titles, abstracts, and full texts to determine eligibility, abstracted data, and assessed the credibility of pooled associations according to the interim Venice criteria. Authors were contacted for clarifications if needed. Meta-analyses were performed for variants assessed in more than two studies.Evidence synthesisWe identified 74 eligible studies containing data on 70 different genes. A total of 35 meta-analyses were performed with statistical significance in five (ACE, ELAC2, GSTM1, TERT, and VDR). The heterogeneity was high in three of these meta-analyses. The rs731236 variant of the vitamin D receptor had a protective effect for LUTS (odds ratio: 0.64; 95% confidence interval, 0.49-0.83) with moderate heterogeneity (I(2)=27.2%). No evidence for publication bias was identified. Limitations include wide-ranging phenotype definitions for LUTS and limited power in most meta-analyses to detect smaller effect sizes.ConclusionsFew putative genetic risk variants have been reliably replicated across populations. We found consistent evidence of a reduced risk of LUTS associated with the common rs731236 variant of the vitamin D receptor gene in our meta-analyses.Patient summaryCombining the results from all previous studies of genetic variants that may cause urinary symptoms in men, we found significant variants in five genes. Only one, a variant of the vitamin D receptor, was consistently protective across different populations.

Project description:Female pelvic organ prolapse is a common condition associated with significant impact on women's lives from a biopsychosocial perspective. The aim of this systematic review is to identify, appraise and summarize the biopsychosocial profile of women with pelvic organ prolapse. Searches were completed from inception to October 2022 from PubMed, Web of Science, EMBASE, CINAHL, Cochrane, PsycINFO and PEDro using a search string and in line with the Preferred Reporting Information for Systematic reviews and Meta-Analyses protocol. English language studies (randomized controlled trials, cohort studies, case-control studies, qualitative research) investigating female pelvic organ prolapse and using a validated patient-reported outcome measure and validated pelvic organ prolapse objective measurement were examined. Two reviewers independently screened titles, abstracts and full articles for eligibility. Data extraction included participant characteristics, pelvic organ prolapse grading and outcome measures. Risk of bias was assessed using the appropriate Joanna Briggs Institute Tool. Baseline mean score for each questionnaire or questionnaire domain in each category was presented in tertiles (low, moderate and high impact) to allow simple classification of impact. Of 8341 articles identified, 18 were included (n = 2075 women, age range = 22-85 years, parity range = 0-10). One objective outcome measure graded pelvic organ prolapse: Pelvic Organ Prolapse Quantification measurement. Eleven validated patient-reported outcome measures were utilized; two pelvic organ prolapse-specific (Pelvic Organ Prolapse/Urinary Incontinence Sexual Questionnaire, Pelvic Organ Prolapse Quality of Life Questionnaire), the remainder pelvic health (International Consultation on Incontinence Questionnaire-Vaginal Symptoms, International Consultation on Incontinence Questionnaire-Urinary Incontinence Short Form, Pelvic Floor Distress Inventory-20, Incontinence Impact Questionnaire-7, Female Sexual Function Index, Urinary Distress Inventory-6, Kings Health Questionnaire, Pelvic Floor Impact Questionnaire-7) or general health questionnaires (Short Form-36). Patient-reported outcome measures included in the review reported moderate levels of pain with sexual intercourse and low levels of bodily pain. Pelvic organ prolapse had a low to moderate impact in sleep/energy and quality of life and sexual function domains. Its impact on physical symptoms and general health perception domains was low. Patient-reported outcome measures results for physical functioning varied from low to high impact. More impact was demonstrated when using pelvic organ prolapse-specific patient-reported outcome measures. There are opportunities for improvement in the use of patient-reported outcome measures in clinical research which would facilitate increased understanding of the biopsychosocial profile of women with pelvic organ prolapse.

Dataset Information

Systematic review and metaanalysis of genetic association studies of urinary symptoms and prolapse in women.

Objective

Study design

Results

Conclusion

Publications

Systematic review and metaanalysis of genetic association studies of urinary symptoms and prolapse in women.

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