They identify a genetic variant associated with the risk of diabetes and subclinical atherosclerosis

Scientists have identified a variant of the GDF15 gene (rs1054564) that could be key to predicting type 2 diabetes and subclinical atherosclerosis, a cardiovascular disease, which often goes unnoticed due to the lack of obvious symptoms.

The study was carried out by staff from the Networked Biomedical Research Center for Diabetes and Associated Metabolic Diseases (CIBERDEM) in Spain. The work has been carried out at the Pere Virgili Health Research Institute (IISPV) and at the University of Barcelona (UB).

This research reinforces the role of GDF15 as a biomarker in these pathologies and opens new perspectives in personalized medicine.

This work is part of the CIBERDEM intramural project PIM04, which investigates the genetic and metabolic bases of metabolic and cardiovascular diseases.

The study authors analyzed three genetic variants (rs888663, rs1054564 and rs1059369) in a cohort of 153 people, composed of healthy individuals and patients with metabolic diseases such as diabetes and obesity. The results show that the rs1054564 variant is associated with higher levels of GDF15 in the blood, a 16% increase in glucose levels and a 2.4 times greater likelihood of developing atherosclerotic plaques. Furthermore, carriers of this variant had a significantly higher frequency of diabetes compared to non-carriers.

Analysis has also identified the role of GDF15 as a cytokine, a protein that regulates metabolic and immune responses in the body. In this case, GDF15 is associated with the metabolic stress response, contributing to inadequate glucose regulation and the development of atherosclerotic plaques.

CIBERDEM and IISPV group that has coordinated the work. (Photo: CIBER / IISPV)

“Although the results point to the rs1054564 variant as a promising marker, it is necessary to expand the studies in larger cohorts to validate these findings and evaluate their clinical applicability,” says Montse Guardiola, researcher at CIBERDEM and IISPV and co-author of the work, together with Ricardo Rodríguez-Calvo, from CIBERDEM and IISPV, Emma Barroso Fernández (IISPV and CIBERDEM) and María García-Altares (IISPV and CIBERDEM). As Rodríguez-Calvo highlights, “these results contribute to the development of more personalized strategies for the prevention of metabolic and cardiovascular diseases.”

The work has been the result of collaboration between the CIBERDEM groups led by Josep Ribalta, Xavier Correig and Manuel Vázquez Carrera.

The study is titled “The GDF15 3′ UTR Polymorphism rs1054564 Is Associated with Diabetes and Subclinical Atherosclerosis.” And it has been published in the academic journal International Journal of Molecular Sciences. (Source: CIBER)