CEXS-UPF: Key genes for the disease

CEXS-UPF: Key genes for the disease

News from CEXS-UPF

Researchers at the IBE (CSIC-UPF) have compared genes that can cause diseases with genes that have never been linked to any, concluding that the genes linked to diseases share evolutionary characteristics and have protein networks different from the rest of the genome. The study has been published in Human Molecular Genetics.

Taking advantage of projects like 1000 Genomes Project, Elena Bosch and her scientific team have been able to study a total of 3,275 genes linked to diseases. It appears that these genes are more conserved, more relevant in the protein-protein interaction network, quantitatively more expressed and expressed in a more diverse set of tissues than non-disease genes.

Researchers have also explored the differences between genes linked only to Mendelian diseases, genes linked only to complex diseases and genes related to both pathologies. "An increasing amount of evidence, including the present study, proves a role for genes linked to Mendelian diseases in the aetiology of complex disorders," says Nino Spataro, author of the study. "We observed that more than 23% of genes linked to a Mendelian disorder are also associated with at least one complex disease."

More information:
CEXS-UPF website

Reference work:
Nino Spataro, Juan Antonio Rodríguez, Arcadi Navarro, Elena Bosch. Properties of human disease genes and the role of genes linked to Mendelian disorders in complex disease aetiology. Human Molecular Genetics. doi: 10.1093/hmg/ddw405