An international team of scientists, (with the participation of the University of Granada), has deciphered the most complete genetic map to date of systemic lupus erythematosus (SLE), a chronic autoimmune disease that especially affects women of reproductive age and for which there is no cure . The finding has been published in the journal Nature Genetics .
The researchers genotyped 4,500 patients diagnosed with lupus (SLE) and 1,200 healthy adults as a control group, as well as using data from healthy controls from dbGaP , a global database of genotypes and phenotypes orchestrated by the National Center. Information Technology, a division of the US National Institutes of Health.
So far, more than 50 genes related to SLE had been identified. Now, thanks to this new research, 12 new genes related to this pathology have been discovered . “We also found that among these genes there is an enrichment of transcription factors, genes that regulate the expression of other genes. At the same time, they show the cell types where these genes are carrying out their effects ”, Marta Alarcón Riquelme, co-author of the study, explains to the SINC agency.
The study (whose objective is to study patients with various diseases such as systemic lupus erythematosus, systemic sclerosis, Sjögren’s syndrome or antiphospholipid syndrome) presents not only the most complete genetic map of lupus to date, but also a meta-analysis with two more cohorts of the illness. This finding will allow the patients to be classified according to their genetic profile and the risk variants they possess .
