Related Experiment Video
Updated: Nov 8, 2025
06:15
A Multiple Integrated Social Stress Model for Psychiatric Disorders in Female C57BL/6J Mice
Published on: July 15, 2025
799
Genome-Wide Association Study Identifies Two Novel Loci Associated with Female Stress and Urgency Urinary
Rufus Cartwright1,2, Larissa Franklin3, Kari A O Tikkinen4,5
1Department of Urogynaecology, Imperial College London, UK .
The Journal of Urology
|April 27, 2021
Summary
This study identified two new genetic risk loci for urinary incontinence. The endothelin 1 (EDN1) gene is linked to urgency incontinence, and the MARCO gene is linked to stress incontinence.
Area of Science:
- Genetics
- Urology
- Molecular Biology
Background:
- Genome-wide association studies (GWAS) have historically failed to identify consistent genetic risk factors for stress and urgency urinary incontinence.
- Understanding the genetic underpinnings of urinary incontinence is crucial for developing targeted therapies.
Purpose of the Study:
- To conduct a large-scale genome-wide association study to identify genetic risk loci for stress and urgency urinary incontinence.
- To validate identified loci through replication studies and investigate the biological relevance of associated genes through transcriptomics.
Main Methods:
- A multi-stage GWAS was performed in European women, including discovery cohorts and replication cohorts.
- Phenotyping utilized symptom questionnaires, and bladder biopsies were analyzed for gene expression.
- Meta-analyses and whole transcriptome analyses were conducted to confirm associations and explore pathway involvement.
Main Results:
- The study identified 16 single nucleotide polymorphisms (SNPs) at 5 loci reaching genome-wide significance in the discovery stage.
- Replication confirmed associations for rs138724718 near the macrophage receptor with collagenous structure (MARCO) gene with stress incontinence (replication p=0.003).
- Replication also confirmed associations for rs34998271 near the endothelin 1 (EDN1) gene with urgency incontinence (replication p=0.0008).
- Transcriptomics revealed differential expression of 7/19 genes in the endothelin pathway between stress and urgency incontinence phenotypes.
Conclusions:
- Two novel genetic risk loci were identified: near EDN1 for urgency incontinence and near MARCO for stress incontinence.
- These findings provide new insights into the genetic architecture of urinary incontinence.
- The identified genes have plausible biological roles in smooth muscle function and immune response, suggesting potential mechanisms for incontinence development.
Keywords:
geneticsgenome-wide association studygenomicsurinary incontinence, stressurinary incontinence, urgeMore Related Videos
08:53Recurrent Escherichia coli Urinary Tract Infection Triggered by Gardnerella vaginalis Bladder Exposure in Mice
Published on: December 4, 2020
6.5K
09:49Assessment of Perigenital Sensitivity and Prostatic Mast Cell Activation in a Mouse Model of Neonatal Maternal Separation
Published on: August 13, 2015
9.4K
Related Concept Videos
01:11Genome-wide Association Studies-GWAS
14.8K
Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
GWAS does not require the identification of the target gene involved in...
14.8K
01:23Urinary Bladder
2.1K
The urinary bladder is a hollow, muscular sac that temporarily stores urine before it is expelled from the body. It can hold approximately 600 mL of urine prior to micturition. The bladder is retroperitoneal and located behind the pubic symphysis in the pelvic floor.
In males, the bladder is situated in front of the rectum, while in females, it is positioned anterior to the vagina and uterus. The bladder floor contains an inverted triangular area called the trigone, defined by the two ureteric...
In males, the bladder is situated in front of the rectum, while in females, it is positioned anterior to the vagina and uterus. The bladder floor contains an inverted triangular area called the trigone, defined by the two ureteric...
2.1K
01:26Urinary Tract Calculi II: Pathophysiology and Clinical Manifestations
192
Renal calculi, commonly termed kidney stones, are crystalline solid masses that form in the kidneys but can occur at any point within the urinary system, encompassing the kidneys, ureters, bladder, and urethra.The pathophysiology of renal stones involves several key factors: supersaturation of the urine with stone-forming constituents, changes in urine pH, a decrease in urine volume, and the presence of substances that promote or inhibit stone formation.Supersaturation of Urine: This is the...
192
01:25Urinary Tract Infection II: Pathophysiology
256
The pathophysiology of urinary tract infections (UTIs) encompasses several progressive stages, beginning with bacterial colonization and culminating in potential systemic complications if untreated. UTIs are primarily initiated by bacteria, such as Escherichia coli, which often originate from the gastrointestinal tract and migrate to the urinary system through the periurethral area. This migration can occur via several routes, including improper hygiene practices, sexual activity, or...
256
01:21Nursing Assessment of the Genitourinary System I: Health History
176
The genitourinary system is critical to maintaining fluid balance, waste elimination, and reproductive function. Nurses play a vital role in assessing this system, beginning with a thorough health history. This process involves gathering patient information, identifying risk factors, and recognizing symptoms of genitourinary disorders. Early detection is vital for timely interventions and management.1. Gathering Patient InformationA complete health history includes the patient’s personal,...
176
01:30Irritable Bowel Syndrome II: Clinical Features and Diagnostic Evaluation
430
Irritable Bowel Syndrome II: Clinical Features and Diagnostic Evaluation
Irritable Bowel Syndrome (IBS) is classified into subtypes based on the predominant bowel habits as determined by the Bristol Stool Form Scale (BSFS). The subtypes are:
Irritable Bowel Syndrome (IBS) is classified into subtypes based on the predominant bowel habits as determined by the Bristol Stool Form Scale (BSFS). The subtypes are:
430