Approved research

Study of the genetic basis of mitral valve prolapse using meta-analysis of GWAS

Lay summary

The mitral valve is a tissue composed of two leaflets that allows the blood not to come back to the atrium to the ventricle during a cardiac cycle. Except in very rare cases, mitral valve prolapse (MVP) occurs without any other conditions and is considered as a common degenerative cardiac valvulopathy that affects nearly one in 40 individuals in the general population. When patients are diagnosed, they may live with this conditions but they have a poor quality of life, especially when they are at an old age. When an individual present MVP he is at high risk to have heart failure, arrhythmia and can even die suddenly. The only treatment we have currently is surgery repair or replacement of the valve, especially if the patient present mitral regurgitation (back flow of the blood in the ventricle) diagnosed by echocardiograms. Our research group compares genetic information from MVP patients and controls to identify positions in the genome where mutated or deregulated genes can predict clinical progression of mitral valve prolapse through early detection and provide novel biological clues on valve degeneration. However, there is only limited number of case control cohorts with DNA available to conduct large-scale genetic studies. In a previous study, we analysed 1400 cases and 1500 controls and identified at least 6 genomic regions that we proved are important for MVP risk. We believe that the extension of our genetic study to a larger number of cases and controls available at the UKBiobank resources will hugely improve the current findings and we expect to identify more genes involved in valve disease. It is important to know which genes are important the genetic risk of MVP and what are their functions because this knowledge is a mandatory step in the scientific process of conceiving new therapeutics to valve disease. For instance, thanks to the genetic information, and as part of the precision medicine goals, we can also identify who are the persons in the general populations that will benefit most from a preventive treatment based on their genetic make-up. Also, we can work on how to stop the degeneration of the valve in proteins if we find what causes in the patients compared to healthy persons the degradation of some important proteins of the substance called the extracellular matrix where valve cells are anchored.