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CREAL and UPF study finds genetic variant that protects against asthma and obesity

The study analyzed data from 5,800 people around the world and the results show differences between continents

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05.03.2014

Scientists at the Center for Research in Environmental Epidemiology (CREAL) and the Pompeu Fabra University (UPF) Department of Experimental and Health Sciences (CEXS) have discovered a variable region of the genome (an inversion) that protects against both asthma and obesity.

An inversion is part of the genome whose sequence is in reverse order, but it doesn’t always lead to disease. In this case, the variant analyzed explains 40% of genetic protection against developing these two pathologies simultaneously. The CREAL and UPF study, published in The American Journal of Human Genetics, is significant because it has proven for the first time that asthma and obesity share a genetic variant. Moreover, it has also used innovative bioinformatics tools, which can analyze a complete genome to discover inversions and thus detect common diseases.

Data was collected from 5,800 people in Africa, America, Asia and Europe. The results have shown that the genomic region analyzed varies according to the continent. Luis Pérez-Jurado, researcher in the CEXS Genetics Unit and at the Center for Biomedical Research on Rare Diseases (CIBERER) and coordinator of the study, explains: “This is an example of how changes in the genome can be selected depending on the adaptation of humans to their environment.” In this case, the alteration was encouraged in cold climates, which is why 50% of the population of northern Europe has it but only 10% of that of eastern Africa.

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CREAL is located at the PRBB.