Gene linked to female urinary incontinence identified

Raising hopes for a new effective treatment for women experiencing urine leakage, researchers have found that a gene involved in the ability of the bladder to contract may be linked to female urinary incontinence.

Urinary incontinence in women is common, with almost 50 per cent of adult women experiencing leakage at least occasionally.

"(At least) 25 per cent of adult women will experience incontinence severe enough to impact on their quality of life," said Rufus Cartwright, a visiting researcher at Imperial College, London.

"Finding a genetic cause and a potential treatment route is, therefore, a priority," Cartwright added.

The new findings, scheduled to be presented at the annual conference of the European Society of Human Genetics being held from May 27-30 in Copenhagen, Denmark, promise that drugs already used for the treatment of other conditions can help affected women combat this distressing problem.

The researchers undertook a genome-wide association study (GWAS) in just under 9,000 women from three groups in Finland and Britain, confirming their findings in six further studies.

Genome-wide association studies work by scanning markers across the complete sets of DNA of large numbers of people in order to find genetic variants associated with a particular disease.

Analysis of the study data yielded a risk locus for urinary incontinence close to the endothelin gene, known to be involved in the ability of the bladder to contract.

Drugs that work on the endothelin pathway are already used in the treatment of pulmonary hypertension and Raynaud's syndrome, a condition where spasm of the arteries causes reduced blood flow, most usually to the fingers.

"Previous studies had failed to confirm any genetic causes for incontinence. Although I was always hopeful that we would find something significant," Cartwright said.

"There were major challenges involved in finding enough women to participate, and then collecting the information about incontinence. It has taken more than five years of work, and has only been possible thanks to the existence of high quality cohort studies with participants who were keen to help," Cartwright said.

Pelvic floor disorders, including urinary incontinence, but also faecal incontinence and pelvic organ prolapse, have a devastating effect on quality of life. Most commonly they occur after childbirth, or at menopause, though some women report incontinence dating from childhood.

Current treatment for urinary incontinence in women includes pelvic floor and bladder training, advice on lifestyle changes (for example, reducing fluid intake and losing weight), drugs to reduce bladder contraction, and surgery.

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