The results of a research study published by the journal Circulation provide new evidence on the genetic basis of dilated cardiomyopathy, a pathology that compromises the heart's ability to pump blood effectively. The study was coordinated by Francesco Mazzarotto, research fellow of the Department of Experimental and Clinical Medicine, in collaboration with the Cardiovascular Genetics and Genomics Group of Imperial College London, the Laboratory for Molecular Medicine in Boston, the Singapore Heart Center, the Medical Genetics Laboratory and the University of Oxford and the Amsterdam UMC.
Dilated cardiomyopathy affects about 1 in every 250 people and is a major cause of heart transplantation. “There are over 100 genes implicated in this disease in the literature and tested in clinical laboratories,” explains Mazzarotto, “but it remains to be clarified which of them and which genetic variants are really associated with the pathology.”
In the study, the frequency of rare genetic variants was measured in 2,538 patients, analyzing the coding regions of 56 genes commonly tested for the onset of the disease. This frequency was compared with that observed in 912 healthy people and in a reference population of 60,706 individuals. The analysis led to the identification of 12 genes significantly associated with the pathology, two of which appear primarily causative ofpediatric forms.
"Overall, we estimate that variants in these genes can explain between 17 and 26% of dilated cardiomyopathy cases” comments the researcher. “Furthermore, the absence of a significant excess of variants in the other 44 genes analyzed indicates that they have, at most, a limited role in terms of number of disease cases."
“Further studies will be needed to better understand the complete genetic architecture of the pathology, but our research will help to diminish the number of erroneous and inconclusive genetic testing results in diagnostic laboratories” concludes Mazzarotto.
