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

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Systematic review and metaanalysis of genetic association studies of urinary symptoms and prolapse in women. / Cartwright, Rufus; Kirby, Anna C.; Tikkinen, Kari A. O. et al.

In: American Journal of Obstetrics and Gynecology, Vol. 212, No. 2, 02.2015, p. 199.e1-24.

Research output: Contribution to Journal/MagazineJournal articlepeer-review

Harvard

Cartwright, R, Kirby, AC, Tikkinen, KAO, Mangera, A, Thiagamoorthy, G, Rajan, P, Pesonen, J, Ambrose, C, Gonzalez-Maffe, J, Bennett, P, Palmer, T, Walley, A, Järvelin, M-R, Chapple, C & Khullar, V 2015, 'Systematic review and metaanalysis of genetic association studies of urinary symptoms and prolapse in women', American Journal of Obstetrics and Gynecology, vol. 212, no. 2, pp. 199.e1-24. https://doi.org/10.1016/j.ajog.2014.08.005

APA

Cartwright, R., Kirby, A. C., Tikkinen, K. A. O., Mangera, A., Thiagamoorthy, G., Rajan, P., Pesonen, J., Ambrose, C., Gonzalez-Maffe, J., Bennett, P., Palmer, T., Walley, A., Järvelin, M-R., Chapple, C., & Khullar, V. (2015). Systematic review and metaanalysis of genetic association studies of urinary symptoms and prolapse in women. American Journal of Obstetrics and Gynecology, 212(2), 199.e1-24. https://doi.org/10.1016/j.ajog.2014.08.005

Vancouver

Cartwright R, Kirby AC, Tikkinen KAO, Mangera A, Thiagamoorthy G, Rajan P et al. Systematic review and metaanalysis of genetic association studies of urinary symptoms and prolapse in women. American Journal of Obstetrics and Gynecology. 2015 Feb;212(2):199.e1-24. doi: 10.1016/j.ajog.2014.08.005

Author

Cartwright, Rufus ; Kirby, Anna C. ; Tikkinen, Kari A. O. et al. / Systematic review and metaanalysis of genetic association studies of urinary symptoms and prolapse in women. In: American Journal of Obstetrics and Gynecology. 2015 ; Vol. 212, No. 2. pp. 199.e1-24.

Bibtex

@article{c621d6ad0c934f5e958bed3afa5c466e,
title = "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.",
keywords = "Female, Genetic Association Studies, Genotype, Humans, Lower Urinary Tract Symptoms, Odds Ratio, Pelvic Organ Prolapse",
author = "Rufus Cartwright and Kirby, {Anna C.} and Tikkinen, {Kari A. O.} and Altaf Mangera and Gans Thiagamoorthy and Prabhakar Rajan and Jori Pesonen and Chris Ambrose and Juan Gonzalez-Maffe and Phillip Bennett and Tom Palmer and Andrew Walley and Marjo-Riitta J{\"a}rvelin and Chris Chapple and Vik Khullar",
note = " Copyright {\textcopyright} 2015 The Authors. Published by Elsevier Inc. All rights reserved.",
year = "2015",
month = feb,
doi = "10.1016/j.ajog.2014.08.005",
language = "English",
volume = "212",
pages = "199.e1--24",
journal = "American Journal of Obstetrics and Gynecology",
issn = "0002-9378",
publisher = "Mosby Inc.",
number = "2",

}

RIS

TY - JOUR

T1 - Systematic review and metaanalysis of genetic association studies of urinary symptoms and prolapse in women

AU - Cartwright, Rufus

AU - Kirby, Anna C.

AU - Tikkinen, Kari A. O.

AU - Mangera, Altaf

AU - Thiagamoorthy, Gans

AU - Rajan, Prabhakar

AU - Pesonen, Jori

AU - Ambrose, Chris

AU - Gonzalez-Maffe, Juan

AU - Bennett, Phillip

AU - Palmer, Tom

AU - Walley, Andrew

AU - Järvelin, Marjo-Riitta

AU - Chapple, Chris

AU - Khullar, Vik

N1 - Copyright © 2015 The Authors. Published by Elsevier Inc. All rights reserved.

PY - 2015/2

Y1 - 2015/2

N2 - 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.

AB - 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.

KW - Female

KW - Genetic Association Studies

KW - Genotype

KW - Humans

KW - Lower Urinary Tract Symptoms

KW - Odds Ratio

KW - Pelvic Organ Prolapse

U2 - 10.1016/j.ajog.2014.08.005

DO - 10.1016/j.ajog.2014.08.005

M3 - Journal article

C2 - 25111588

VL - 212

SP - 199.e1-24

JO - American Journal of Obstetrics and Gynecology

JF - American Journal of Obstetrics and Gynecology

SN - 0002-9378

IS - 2

ER -