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

Abstract

ObjectiveFamily 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 DesignPubMed 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 In all, 27 published and 7 unpublished studies provided data on polymorphisms in or near 32 different genes.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.ResultsIn 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.ConclusionThese 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.

A Population-based Survey of the Prevalence, Potential Risk Factors, and Symptom-specific Bother of Lower Urinary Tract Symptoms in Adult Chinese Women

“…It is possible that women with advanced POP experience more obstructive urinary symptoms, as reported by Rosenzweig et al [34] and Raz et al [35]. Family studies and twin studies have demonstrated that LUTS and POP are both heritable [33]. Our study, however, is crosssectional, and the risk factors we identified cannot be considered established causes of LUTS.…”

“…The close relationship between LUTS and POP has rarely been explored. Having either incontinence or prolapse may be associated with an increased risk of developing the other condition [33]. It is possible that women with advanced POP experience more obstructive urinary symptoms, as reported by Rosenzweig et al [34] and Raz et al [35].…”

Pelvic organ prolapse

“…[7][8][9][10][11][12][13][14][15][16][17][18][19][20][21][22] Women who develop symptoms may present with a single symptom such as feeling a vaginal bulge or pelvic pressure, or they may present with a combination of symptoms. 23 Loss of normal vaginal support occurs in most women with advancing age, particularly if they have had children.…”

Síndrome De Hipermobilidade Articular Nos Pacientes Com Disfunções Do Diafragma Da Pelve: Revisão De Literatura

“…Utiliza-se o termo Síndrome de hipermobilidade articular, quando há uma combinação de sinais e sintomas extraesqueléticos e musculoesqueléticos que incluem um número abrangente de disfunções, destacando entre elas a disfunção pélvica (2) . Disfunção do diafragma da pelve é uma condição que interfere diretamente na qualidade de vida e inclui a incontinência fecal, dor pélvica, disfunções sexuais, incontinência urinária (IU) e prolapso de órgãos pélvicos (POP), sendo os dois últimos considerados imensamente prevalentes (3) . Em meio a uma carência literária na genética molecular de IU e POP, despertou-se maior empenho sobre polimorfismos de outro tipo de colágeno I α1 (COL1A1) ou colágeno tipo III α1 (COL3A1).…”