Variations in our genes that increase the risk of having kidney stones
Research type
Research Study
Full title
Genetic variations that increase the risk for calcium kidney stones: a family-based study
IRAS ID
206718
Contact name
Paul Cook
Contact email
Sponsor organisation
University Hospital Southampton NHS Foundation Trust
Duration of Study in the UK
5 years, 0 months, 1 days
Research summary
Our research aims to identify abnormalities (variations) in genes which increase the risk for stones.
In 1998-2000 we investigated the families of 14 stone formers from our Southampton stone clinic with at least two first degree relatives with stones. We collected blood and urine samples for biochemistry tests, and blood and a mouth wash sample for DNA studies, from all participating adult family members. Spouses and older children provided a mouth wash sample for DNA and urine for biochemical tests. We found no evidence that five genes selected as strong candidates were associated with an increased risk for stones. We did not have facilities or funding to do a wider gene search. The DNA analyses used the mouth wash samples provided. The blood samples were held in reserve.
Using the advanced technology which has become available since that time, the Department of Human Genetics & Genomic Medicine, University of Southampton, can now look for variations in hundreds of genes at one go.
We will use this facility to analyse DNA in blood samples from the first study and in blood samples collected now from willing family members who only supplied a mouth wash sample originally. We will look for inherited gene variants that are associated with stone formation in each family. We will then need to find out whether these variants could have a role in stone formation and, if so, by what mechanism. These functional studies will probably require collaboration with other research centres. The estimated duration of the study is five years. It is likely that the genes incriminated will differ between families. We plan to recruit more families in a future investigation to ascertain the range of abnormalities involved.REC name
East of England - Cambridge Central Research Ethics Committee
REC reference
16/EE/0293
Date of REC Opinion
6 Jul 2016
REC opinion
Favourable Opinion