National Children's Research Centre

Researchers identify region of DNA associated with childhood VUR

November 22, 2017

NCRC researchers help identify a possible major genetic contributor to primary VUR – the most common problem related to the bladder, ureters, and kidneys, of children.

Primary VUR – or Vesicoureteric Reflux – is a potentially serious condition in which urine flows back into the kidneys from the bladder. The result of an anatomical abnormality, complications include recurrent urinary tract infections, high blood pressure, and, in extreme cases, kidney failure. Primary VUR is usually diagnosed in early childhood, and treatment may involve surgery.

High grade bilateral vesicoureteric reflux (VUR) in an infant

Primary VUR is has a strong genetic basic. Indeed, there is high chance that parents will pass it on to their children. In addition, if one child within a family is affected, then it is not uncommon for any siblings they may have to also be affected. Despite this, scientists have failed to identify the most likely genetic contributors to this condition of childhood.

Now, in the largest genetic study of primary VUR to date, researchers, including Dr John Darlow and Professor Prem Puri of the NCRC, and Professor David Barton of Our Lady’s Children’s Hospital, have identified a region of DNA which is strongly associated with this condition. By studying patients from three European countries – Ireland, the UK, and Slovenia – researchers were able to perform genetic analysis on a large number of families, and individuals, with primary VUR. This led to the discovery of a region of DNA – on chromosome 10q26 – which is highly likely to contribute to the development of VUR in children. This is an exciting discovery, and one with the potential to impact future research.

Although an important breakthrough, there is still more work to be done. For Professors Barton and Puri, who have been leading the way with their long-term research programme focused on the genetic cause of VUR, the next challenge will be to drill down into the region of DNA identified, and to investigate which genes might be involved. Ultimately, the hope is to understand cause of the condition, and to find new treatments, and new ways to identify the children most at risk.

The full paper, published in Nature Scientific Reports, can be found here.