This significant scientific breakthrough, published this week in the prestigious academic journal Nature Genetics, paves the way for the development of new, more effective, and personalized medical treatments for this autoimmune disease. Their work provides us with the tools needed to classify patients in accordance with their genetic profiles and the risks associated with these profiles.
It is the most comprehensive genetic study carried out to date of systemic lupus erythematosus (SLE or lupus), a disease for which there is currently no cure, and includes a meta-analysis with two additional cohorts suffering from the illness.
Marta AlarcónRiquelme, from the Centro Pfizer-Universidad de Granada-Junta de Andalucía deGenómica e Investigación Oncológica (GENYO), is one of the main researchersinvolved in the study. Together with Professor Timothy J Vyse, from King´sCollege London, the UGR scientist carried out genotyping of 4500 patientsdiagnosed with lupus and a further 1200 healthy patients who acted as a controlgroup. Moreover, the researchers also employedcontrol data from NIH dbGAP, a global phenotype and genotype database.
12 new genes
Until now, thenumber of genes identified with lupus had surpassed 50. In this study, theresearchers have managed to identify a further 12 new genes, a hugely importantscientific discovery.
Currently, 0.05%of the population suffers from lupus. It tends to bemore prevalent in women of reproductive age (9:1) and has a high fatality rate.
As systemic autoimmune diseases are highly varied and their manifestations overlap, the European project PRECISESADS was launched in 2014 witha view to re-classifying these diseases in terms of their molecularbiosignatures. Over the course of five years, the project will study over 2000patients with diverse diseases: systemic lupus erythematosus, scleroderma, Sjogren´s syndrome,antiphospholipid syndrome, and mixed connective tissue disease.
Bibliography:
Genetic association analyses implicate aberrant regulation of innate and adaptive immunity genes in the pathogenesis of systemic lupus erythematosus
James Bentham, David L Morris, Deborah S Cunninghame Graham, Christopher L Pinder, Philip Tombleson, Timothy W Behrens, Javier Martín, Benjamin P Fairfax, Julian C Knight, Lingyan Chen,Joseph Replogle, Ann-Christine Syvänen, Lars Rönnblom, Robert R Graham,Joan E Wither, John D Rioux, Marta E Alarcón-Riquelme& Timothy J Vyse
Nature Genetics (2015)
doi:10.1038/ng.3434
Contact the researcher:
MartaAlarcón Riquelme
CentroPfizer-Universidad de Granada-Junta de Andalucía de Genómica e InvestigaciónOncológica (GENYO)
Email: marta.alarcon@genyo.es
