News from the CREAL and the UPF
Researchers from the CREAL, a CERCA Institute, and the Department of Experimental and Health Sciences (CEXS) of UPF have found that a variable region of the genome (an inversion, or part of the genome whose sequence is in reverse order to the normal, in 16p11.2) protects against developing two pathologies jointly: asthma and obesity. It is the first time convincing evidence of the existence of a common genetic variant for these two diseases has been reported.
Another novelty of this article, published in The American Journal of Human Genetics, is the use of new bioinformatics tools (inveRsion) that are capable of analysing the entire genome to identify regions with inversions and to analyse their role in relation to common disease using existing data from previously studied individuals. Inversions are alterations in the genome that may or may not be pathologic.
Juan R. González, Alejandro Cáceres, Tonu Esko, Ivon Cuscó, Marta Puig, Mikel Esnaola, Judith Reina, Valerie Siroux, Emmanuelle Bouzigon, Rachel Nadif, Eva Reinmaa, Lili Milani, Mariona Bustamante, Deborah Jarvi, Josep M. Antó, Jordi Sunyer, Florence Demenais, Manolis Kogevinas, Andres Metspalu, Mario Cáceres, Luis A. Pérez-Jurado, (2014). “A Common 16p11.2 Inversion Underlies the Joint Susceptibility to Asthma and Obesity”. The American Journal of Human Genetics, 20 Febr. http://dx.doi.org/10.1016/j.ajhg.2014.01.015