dijous 28 de maig de 2020

Chromosomal variants help explain why people with obesity often develop diseases such as asthma and diabetes

News from ISGlobal

People who are obese often have comorbid conditions, for example hypertension, asthma, diabetes or depression. While the authors of many epidemiological studies have postulated an association between these diseases and obesity, until now it was not known whether obesity was a cause or a consequence of these comorbidities or the result of shared genetic conditions . Now, a study led by the Barcelona Institute for Global Health (ISGlobal) has identified several chromosomal alterations that explain the tendency for obesity to be associated with certain other diseases. The research, recently published in the American Journal of Human Genetics, is the result of a collaboration with Pompeu Fabra University (UPF) in Barcelona, the University of Adelaide, the Estonian Genome Centre and the Barcelona Supercomputing Centre.

Analysing data from over 400,000 individuals, the researchers identified chromosomal inversions responsible for shared susceptibility to obesity and certain related diseases. "These types of mutations can alter the function of several genes located in or near the inverted regions. This is why inversions make certain people more susceptible to diseases that often occur concomitantly, such as obesity and hypertension, for example" explains Juan Ramón González, first author and coordinator of the study and head of the Bioinformatic Research Group in Genetic Epidemiology (BRGE) at ISGlobal.

The findings of this study indicate that certain inversions often found in the population are more frequent in people who are obese and have at least one of the diseases typically associated with excess body weight. In fact, the research team identified three chromosomal inversions that are common in people who have obesity andasthma, obesity and hypertension, or obesity and depression.


Juan R González, Carlos Ruiz-Arenas, Alejandro Cáceres, Ignasi Morán, Marcos López-Sánchez, Lorena Alonso, Ignacio Tolosana, Marta Guindo-Martínez, Josep M Mercader, Tonu Esko, David Torrents, Josefa González, Luis A Pérez-Jurado. Polymorphic inversions underlie the shared genetic susceptibility of obesity-related diseasesAmerican Journal of Human Genetics, Mayo 2020. DOI: 10.1016/j.ajhg.2020.04.017

More information:
ISGlobal website